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Rare systemic diseases

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  1. Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatmen...

    Authors: K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings and M. E. Faughnan

    Citation: Orphanet Journal of Rare Diseases 2021 16:390

    Content type: Research

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  2. Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare dis...

    Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo…

    Citation: Orphanet Journal of Rare Diseases 2021 16:374

    Content type: Research

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  3. Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses...

    Authors: Judith Leyens, Tim Th. A. Bender, Martin Mücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach and Matthias F. Seidel

    Citation: Orphanet Journal of Rare Diseases 2021 16:326

    Content type: Research

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  4. Overweight and obesity are common features of the rare disease Bardet–Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in th...

    Authors: Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali and Robert M. Haws

    Citation: Orphanet Journal of Rare Diseases 2021 16:276

    Content type: Research

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  5. Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The...

    Authors: Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke

    Citation: Orphanet Journal of Rare Diseases 2021 16:245

    Content type: Review

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  6. Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic char...

    Authors: Elena Cristina De Sautu De Borbón, Juan Manuel Guerra Vales, Carlos Lumbreras Bermejo, Felix Guerrero Ramos, María José Buj Padilla, Jesús González de la Aleja and Montserrat Morales Conejo

    Citation: Orphanet Journal of Rare Diseases 2021 16:243

    Content type: Research

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  7. Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90%...

    Authors: Robert Waltereit, Guillaume Beaure d’Augères, Jasna Jancic, John Chris Kingswood, Maya Koleva, Ruben Marques, Vicente Villanueva and Stéphane Auvin

    Citation: Orphanet Journal of Rare Diseases 2021 16:216

    Content type: Research

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  8. Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare and life-threatening disorder, which usually occurs during infancy or early childhood and is characterized by abnormal activation of the immune syste...

    Authors: Annabel Nixon, Elina Roddick, Karen Moore and Diane Wild

    Citation: Orphanet Journal of Rare Diseases 2021 16:205

    Content type: Research

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  9. The global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causing the ongoing coronavirus disease 2019 (COVID-19) pandemic has raised serious concern for patients with chronic...

    Authors: Thomas H. Brannagan III, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, Thibaud Damy, Angela Dispenzieri, Brian M. Drachman, Nowell Fine, Hanna K. Gaggin, Morie Gertz, Julian D. Gillmore, Esther Gonzalez, Mazen Hanna, David R. Hurwitz…

    Citation: Orphanet Journal of Rare Diseases 2021 16:204

    Content type: Position statement

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  10. Patients with vasculitis, a set of rare diseases, encounter delays in obtaining an accurate diagnosis which can lead to substantial morbidity and increased mortality. This study sought to describe the diagnost...

    Authors: Antoine G. Sreih, Keri Cronin, Dianne G. Shaw, Kalen Young, Cristina Burroughs, Joyce Kullman, Kirthi Machireddy, Carol A. McAlear and Peter A. Merkel

    Citation: Orphanet Journal of Rare Diseases 2021 16:184

    Content type: Research

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  11. Central nervous system (CNS) involvement is extremely rare in eosinophilic granulomatosis with polyangiitis (EGPA), but is associated with a poor prognosis in the five-factor score. This study aims to elucidat...

    Authors: Suying Liu, Ling Guo, Xiaoyuan Fan, Zhaocui Zhang, Jiaxin Zhou, Xinping Tian, Mengtao Li, Xiaofeng Zeng, Li Wang and Fengchun Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:152

    Content type: Research

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  12. Intestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intes...

    Authors: Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma and Jian-long Guan

    Citation: Orphanet Journal of Rare Diseases 2021 16:132

    Content type: Research

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  13. Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve vari...

    Authors: Fatma Jendoubi, Maella Severino-Freire, Mathilde Negretto, Christophe Arbus, Carle Paul and Cristina Bulai Livideanu

    Citation: Orphanet Journal of Rare Diseases 2021 16:118

    Content type: Research

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  14. Long-term prophylaxis with subcutaneous C1-inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) in patients with hereditary angioedema (HAE) due to C1-INH deficiency (C1-INH-HAE) was evaluated in an open-label exten...

    Authors: William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl…

    Citation: Orphanet Journal of Rare Diseases 2021 16:86

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:329

  15. Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used...

    Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia

    Citation: Orphanet Journal of Rare Diseases 2021 16:66

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:247

  16. Anti-melanoma differentiation-associated protein-5 (anti-MDA5) positive patients are characterized by the high mortality rate caused by interstitial lung disease (ILD). We conducted a retrospective study to su...

    Authors: Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu and Zujiang Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:58

    Content type: Research

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  18. Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

    Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock

    Citation: Orphanet Journal of Rare Diseases 2021 16:25

    Content type: Research

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  19. Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the gene...

    Authors: K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton and Marie E. Faughnan

    Citation: Orphanet Journal of Rare Diseases 2021 16:12

    Content type: Research

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  20. Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

    Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi

    Citation: Orphanet Journal of Rare Diseases 2021 16:11

    Content type: Review

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  21. On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of S...

    Authors: Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, Carlo Sabbà and Elina Matti

    Citation: Orphanet Journal of Rare Diseases 2020 15:350

    Content type: Letter to the Editor

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  22. Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage ...

    Authors: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri…

    Citation: Orphanet Journal of Rare Diseases 2020 15:348

    Content type: Position statement

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  23. Mandible osteomyelitis can occur in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare chronic inflammatory disease; however, few studies have explored its characteristics and man...

    Authors: Mu Wang, Yueting Li, Yihan Cao, Xinyu Lu, Yuchen Liu, Jizhi Zhao, Wen Zhang and Chen Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:312

    Content type: Research

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  24. A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimm...

    Authors: Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi, Farhad Shahram, Massoomeh Akhlagi, Tahereh Faezi, Hoda Kavosi, Soroush Moradi and Javad Balasi

    Citation: Orphanet Journal of Rare Diseases 2020 15:297

    Content type: Research

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  25. Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular disease characterized by a heterogeneous clinical presentation and prognosis. Dietary evaluation is relevant in HHT patients to...

    Authors: Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bertè and Elisabetta Buscarini

    Citation: Orphanet Journal of Rare Diseases 2020 15:295

    Content type: Research

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  26. Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients’ experiences have rarely been documented. The aim of ...

    Authors: Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna Hüsing-Kabar, Martin Dugas and Hartmut H. Schmidt

    Citation: Orphanet Journal of Rare Diseases 2020 15:287

    Content type: Research

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  27. The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for...

    Authors: Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Björn Pilebro and Jonas Wixner

    Citation: Orphanet Journal of Rare Diseases 2020 15:278

    Content type: Research

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  28. Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

    Authors: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie…

    Citation: Orphanet Journal of Rare Diseases 2020 15:253

    Content type: Position statement

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  29. The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Class...

    Authors: Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2020 15:197

    Content type: Research

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  30. Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...

    Authors: Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager…

    Citation: Orphanet Journal of Rare Diseases 2020 15:165

    Content type: Position statement

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  31. As lack of awareness of rare diseases (RDs) among healthcare professionals results in delayed diagnoses, there is a need for a more efficient approach to RD training during academic education. We designed an e...

    Authors: S. Sanges, M.-M. Farhat, M. Assaraf, J. Galland, E. Rivière, C. Roubille, M. Lambert, C. Yelnik, H. Maillard, V. Sobanski, G. Lefèvre, D. Launay, S. Morell-Dubois and E. Hachulla

    Citation: Orphanet Journal of Rare Diseases 2020 15:159

    Content type: Review

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  32. Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur...

    Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang and Qi Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:155

    Content type: Research

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  33. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the a...

    Authors: Takashi Hatano, Yuki Ohno, Yu Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari and Shin Egawa

    Citation: Orphanet Journal of Rare Diseases 2020 15:133

    Content type: Research

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  34. The analysis of the main features of randomized controlled trials (RCTs) on ANCA-associated vasculitis (AAV) can inform future study design.

    Authors: Michele Iudici, Xavier Puéchal, Alejandro Brigante, Ignacio Atal and Cem Gabay

    Citation: Orphanet Journal of Rare Diseases 2020 15:130

    Content type: Research

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  35. The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum...

    Authors: Cristina Ponte, Nikita Khmelinskii, Vítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelão, Ana Cordeiro…

    Citation: Orphanet Journal of Rare Diseases 2020 15:110

    Content type: Research

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  36. Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causativ...

    Authors: Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan and Göran Dahllöf

    Citation: Orphanet Journal of Rare Diseases 2020 15:80

    Content type: Research

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  37. In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh wh...

    Authors: Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan and Daniel Coriu

    Citation: Orphanet Journal of Rare Diseases 2020 15:34

    Content type: Research

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  38. Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...

    Authors: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä and Sari Atula

    Citation: Orphanet Journal of Rare Diseases 2020 15:19

    Content type: Research

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  39. Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be dia...

    Authors: Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu and Ji-Hong Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:290

    Content type: Research

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  40. Adamantiades-Behçet’s Disease (ABD) is an immunological recurrent systemic vasculitis with a chronic course. We investigated the predictors of long-term flare-ups, poor outcomes and event-free survival in Chin...

    Authors: Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2019 14:274

    Content type: Research

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  41. Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol ...

    Authors: Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang and Jian Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:265

    Content type: Research

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  42. Systemic bevacizumab is a novel targeted anti-angiogenic therapy for high-output cardiac failure (HOCF) in hereditary hemorrhagic telangiectasia (HHT) but published data is limited. This survey-based study mea...

    Authors: Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy and Vivek N. Iyer

    Citation: Orphanet Journal of Rare Diseases 2019 14:256

    Content type: Research

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  43. Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, ...

    Authors: Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz and Stefan Zschiedrich

    Citation: Orphanet Journal of Rare Diseases 2019 14:235

    Content type: Research

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  44. It is estimated that at present there are over 10 million rare disease patients in China. Recently an increased focus from policy perspective has been placed on rare diseases management. Improved disease defin...

    Authors: Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2019 14:233

    Content type: Research

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  46. A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influ...

    Authors: Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg

    Citation: Orphanet Journal of Rare Diseases 2019 14:220

    Content type: Research

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  47. Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...

    Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase

    Citation: Orphanet Journal of Rare Diseases 2019 14:218

    Content type: Research

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  48. Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigme...

    Authors: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer and Arndt Rolfs

    Citation: Orphanet Journal of Rare Diseases 2019 14:209

    Content type: Research

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  49. Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...

    Authors: Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong and Dmitry Khodyakov

    Citation: Orphanet Journal of Rare Diseases 2019 14:205

    Content type: Research

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  50. Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pa...

    Authors: Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang and Xiaowei Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:178

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172