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  1. Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American popula...

    Authors: Giuseppe A Latino, Dale Brown, Richard H Glazier, Jonathan T Weyman and Marie E Faughnan

    Citation: Orphanet Journal of Rare Diseases 2014 9:115

    Content type: Research

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  2. Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and malignancies. Enzyme replacement ther...

    Authors: Laura van Dussen, Marieke Biegstraaten, Marcel GW Dijkgraaf and Carla EM Hollak

    Citation: Orphanet Journal of Rare Diseases 2014 9:112

    Content type: Research

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  3. Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was ...

    Authors: Kenichi Yasui, Ichiro Yabe, Kunihiro Yoshida, Kazuaki Kanai, Kimihito Arai, Mizuki Ito, Osamu Onodera, Shigeru Koyano, Eiji Isozaki, Setsu Sawai, Yoshiki Adachi, Hidenao Sasaki, Satoshi Kuwabara, Takamichi Hattori, Gen Sobue, Hidehiro Mizusawa…

    Citation: Orphanet Journal of Rare Diseases 2014 9:118

    Content type: Research

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  4. Ehlers-Danlos syndrome (EDS, ORPHA98249) comprises a group of clinically and genetically heterogeneous heritable connective tissue disorders, chiefly characterized by joint hypermobility and instability, skin ...

    Authors: Thomas Wiesmann, Marco Castori, Fransiska Malfait and Hinnerk Wulf

    Citation: Orphanet Journal of Rare Diseases 2014 9:109

    Content type: Review

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  5. In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment...

    Authors: Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, Hsuan-Chieh Liao, Ting-Rong Hsu, Chiao-Wei Lo, Fu-Pang Chang, Chun-Kai Huang, Yung-Hsiu Lu, Shuan-Pei Lin, Wen-Chung Yu and Dau-Ming Niu

    Citation: Orphanet Journal of Rare Diseases 2014 9:111

    Content type: Research

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  6. SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. To furthe...

    Authors: Alberto López-Lera, Olga Pernia, Margarita López-Trascasa and Inmaculada Ibanez de Caceres

    Citation: Orphanet Journal of Rare Diseases 2014 9:103

    Content type: Letter to the Editor

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  7. Involuntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington’s disease (HD). Despite the fact that neuropsychiatric symptoms and cognitive decline ...

    Authors: Tua Vinther-Jensen, Ida U Larsen, Lena E Hjermind, Esben Budtz-Jørgensen, Troels T Nielsen, Anne Nørremølle, Jørgen E Nielsen and Asmus Vogel

    Citation: Orphanet Journal of Rare Diseases 2014 9:114

    Content type: Research

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  8. Immunoglobulin G4- related disease (IgG4-RD) is a rare systemic fibro-inflammatory disorder (ORPHA284264). Although patients have been described more than 100 years ago, the systemic nature of this disease has...

    Authors: Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and Jochen Zwerina

    Citation: Orphanet Journal of Rare Diseases 2014 9:110

    Content type: Review

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  9. X-linked Ornithine Transcarbamylase deficiency (OTCD) is often unrecognized in adults, as clinical manifestations are non-specific, often episodic and unmasked by precipitants, and laboratory findings can be n...

    Authors: Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2014 9:105

    Content type: Research

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  10. Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Prote...

    Authors: Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard, Claus Buhl Nielsen, Tine Plato Hansen and Lilian Bomme Ousager

    Citation: Orphanet Journal of Rare Diseases 2014 9:101

    Content type: Review

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  11. Progressive familial intrahepatic cholestasis type 1 (PFIC1), an inherited liver disease caused by mutations in ATP8B1, progresses to severe cholestasis with a sustained intractable itch. Currently, no effective ...

    Authors: Yasuhiro Hasegawa, Hisamitsu Hayashi, Sotaro Naoi, Hiroki Kondou, Kazuhiko Bessho, Koji Igarashi, Kentaro Hanada, Kie Nakao, Takeshi Kimura, Akiko Konishi, Hironori Nagasaka, Yoko Miyoshi, Keiichi Ozono and Hiroyuki Kusuhara

    Citation: Orphanet Journal of Rare Diseases 2014 9:89

    Content type: Research

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  12. Respiratory bronchiolitis-associated interstitial lung disease (RB-ILD) is a rare, mild inflammatory pulmonary disorder that occurs almost exclusively in current or former heavy smokers, usually between the th...

    Authors: Alicja Sieminska and Krzysztof Kuziemski

    Citation: Orphanet Journal of Rare Diseases 2014 9:106

    Content type: Review

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  13. Hereditary angioedema (HAE) due to C1 inhibitor deficiency is a rare but serious and potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The study objective was to charac...

    Authors: Emel Aygören-Pürsün, Anette Bygum, Kathleen Beusterien, Emily Hautamaki, Zlatko Sisic, Suzanne Wait, Henrik B Boysen and Teresa Caballero

    Citation: Orphanet Journal of Rare Diseases 2014 9:99

    Content type: Research

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  14. Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseas...

    Authors: Patricia Aguilar Martinez, Michael Angastiniotis, Androulla Eleftheriou, Beatrice Gulbis, Maria Del Mar Mañú Pereira, Roumyana Petrova-Benedict and Joan-Lluis Vives Corrons

    Citation: Orphanet Journal of Rare Diseases 2014 9:97

    Content type: Research

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  15. In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogeni...

    Authors: Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, Chia-Feng Yang, Hao-Chuan Liu, Hsiang-Yu Lin, Chun-Kai Huang, He-Jin Gao, Yu-Hsiu Huang, Hsuan-Chieh Liao, Pi-Chang Lee, An-Hang Yang, Chuan-Chi Chiang, Ching-Yuang Lin, Wen-Chung Yu and Dau-Ming Niu

    Citation: Orphanet Journal of Rare Diseases 2014 9:96

    Content type: Research

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  16. MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant plat...

    Authors: Alessandro Pecci, Eva JJ Verver, Nicole Schlegel, Pietro Canzi, Carlos M Boccio, Helen Platokouki, Eike Krause, Marco Benazzo, Vedat Topsakal and Andreas Greinacher

    Citation: Orphanet Journal of Rare Diseases 2014 9:100

    Content type: Research

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  17. There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry e...

    Authors: Andrew Mallett, Chirag Patel, Anne Salisbury, Zaimin Wang, Helen Healy and Wendy Hoy

    Citation: Orphanet Journal of Rare Diseases 2014 9:98

    Content type: Research

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  18. Gaucher disease (GD) is a rare recessively inherited disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase. Accumulation of glucosylceramide or glucosylsphingosine in macrophages leads to inc...

    Authors: Marie Vigan, Jérôme Stirnemann, Catherine Caillaud, Roseline Froissart, Anne Boutten, Bruno Fantin, Nadia Belmatoug and France Mentré

    Citation: Orphanet Journal of Rare Diseases 2014 9:95

    Content type: Research

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  19. Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We rep...

    Authors: Cristina Dias, Rosemarie Rupps, Benjamin Millar, Kunho Choi, Marco Marra, Michelle Demos, Lisa E Kratz and Cornelius F Boerkoel

    Citation: Orphanet Journal of Rare Diseases 2014 9:94

    Content type: Letter to the Editor

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  20. We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of expertise. The database has been...

    Authors: Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi and Matilde Valeria Ursini

    Citation: Orphanet Journal of Rare Diseases 2014 9:93

    Content type: Letter to the Editor

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  21. The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse.

    Authors: Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzabal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez-Pombo and Belén Pérez-Dueñas

    Citation: Orphanet Journal of Rare Diseases 2014 9:92

    Content type: Research

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  22. Sickle cell disease (SCD ORPHA232; OMIM 603903) is a rare hereditary red cell disorder, which global distribution is changed in the last decade due to immigration-fluxes from endemic areas to Western-countries...

    Authors: Gian Luca Forni, Gabriele Finco, Giovanna Graziadei, Manuela Balocco, Paolo Rigano, Silverio Perrotta, Oliviero Olivieri, Maria Domenica Cappellini and Lucia De Franceschi

    Citation: Orphanet Journal of Rare Diseases 2014 9:91

    Content type: Letter to the Editor

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  23. Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To da...

    Authors: Dmitrij Achelrod, Carl Rudolf Blankart, Roland Linder, Yskert von Kodolitsch and Tom Stargardt

    Citation: Orphanet Journal of Rare Diseases 2014 9:90

    Content type: Research

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  24. Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical ...

    Authors: Qiang Gang, Conceição Bettencourt, Pedro Machado, Michael G Hanna and Henry Houlden

    Citation: Orphanet Journal of Rare Diseases 2014 9:88

    Content type: Review

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  25. The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to des...

    Authors: Alison Anderson, Kingsley Wong, Peter Jacoby, Jenny Downs and Helen Leonard

    Citation: Orphanet Journal of Rare Diseases 2014 9:87

    Content type: Research

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  26. Parkinson’s disease (PD) is a movement neurodegenerative disorder characterized by death of dopaminergic neurons in the substantia nigra pars compacta of the brain that leads to movement impairments including ...

    Authors: Inna Bendikov-Bar, Debora Rapaport, Sarit Larisch and Mia Horowitz

    Citation: Orphanet Journal of Rare Diseases 2014 9:86

    Content type: Research

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  27. Pulmonary alveolar proteinosis (PAP) is very rare in children. Only a few small series have been published, with little information about long-term progression. The objective of our study was to describe the c...

    Authors: Laurent Enaud, Alice Hadchouel, Aurore Coulomb, Laureline Berteloot, Florence Lacaille, Liliane Boccon-Gibod, Vincent Boulay, Françoise Darcel, Matthias Griese, Mélinée Linard, Malek Louha, Michel Renouil, Jean-Pierre Rivière, Bruno Toupance, Virginie Verkarre, Christophe Delacourt…

    Citation: Orphanet Journal of Rare Diseases 2014 9:85

    Content type: Research

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  28. Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodent...

    Authors: Muriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, Ana-Carolina Acevedo, Alan J Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal and Agnes Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2014 9:84

    Content type: Review

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  29. Patients with rare diseases such as congenital hypogonadotropic hypogonadism (CHH) are dispersed, often challenged to find specialized care and face other health disparities. The internet has the potential to ...

    Authors: Andrew A Dwyer, Richard Quinton, Diane Morin and Nelly Pitteloud

    Citation: Orphanet Journal of Rare Diseases 2014 9:83

    Content type: Research

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  30. It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level...

    Authors: Huiwen Zhang, Yu Wang, Na Lin, Rui Yang, Wenjuan Qiu, Lianshu Han, Jun Ye and Xuefan Gu

    Citation: Orphanet Journal of Rare Diseases 2014 9:82

    Content type: Research

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  31. Disease registries have the invaluable potential to provide an insight into the natural history of the disease under investigation, to provide useful information (e.g. through health indicators) for planning h...

    Authors: Laura Viviani, Anna Zolin, Anil Mehta and Hanne Vebert Olesen

    Citation: Orphanet Journal of Rare Diseases 2014 9:81

    Content type: Research

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  32. A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptos...

    Authors: Marios Kambouris, Rachid C Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A Curmi and Hatem El-Shanti

    Citation: Orphanet Journal of Rare Diseases 2014 9:80

    Content type: Research

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  33. Inborn enzyme defects of mitochondrial fatty acid beta-oxidation (FAO) form a large group of genetic disorders associated to variable clinical presentations ranging from life-threatening pediatric manifestatio...

    Authors: Virginie Aires, Dominique Delmas, Carole Le Bachelier, Norbert Latruffe, Dimitri Schlemmer, Jean-François Benoist, Fatima Djouadi and Jean Bastin

    Citation: Orphanet Journal of Rare Diseases 2014 9:79

    Content type: Research

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  34. Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disease characterized by the loss of motoneurons (MNs) in the spinal cord, brainstem and motor cortex, causing progressive paralysis and ...

    Authors: Renzo Mancuso, Jaume del Valle, Marta Morell, Mercé Pallás, Rosario Osta and Xavier Navarro

    Citation: Orphanet Journal of Rare Diseases 2014 9:78

    Content type: Research

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  35. Autoimmune pancreatitis (AIP) has been recognized as a distinct type of pancreatitis that is possibly caused by autoimmune mechanisms. AIP is characterized by high serum IgG4 and IgG4-positive plasma cell infi...

    Authors: Masahiro Maruyama, Takayuki Watanabe, Keita Kanai, Takaya Oguchi, Jumpei Asano, Tetsuya Ito, Yayoi Ozaki, Takashi Muraki, Hideaki Hamano, Norikazu Arakura and Shigeyuki Kawa

    Citation: Orphanet Journal of Rare Diseases 2014 9:77

    Content type: Review

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  36. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluore...

    Authors: May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, Annalisa Ciasulli, Christiane Buisson, Smail Hadj-Rabia, Andrea Diociaiuti, Carolina F Gouveia, Angela Hernández-Martín, Raul de Lucas Laguna, Mateja Dolenc-Voljč, Gianluca Tadini, Guglielmo Salvatori, Cristiana De Ranieri, Stephanie Leclerc-Mercier and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2014 9:76

    Content type: Review

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  37. Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile P...

    Authors: Tim A Kanters, Iris Hoogenboom-Plug, Maureen PMH Rutten-Van Mölken, W Ken Redekop, Ans T van der Ploeg and Leona Hakkaart

    Citation: Orphanet Journal of Rare Diseases 2014 9:75

    Content type: Research

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  38. Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cil...

    Authors: Ennio Del Giudice, Marina Macca, Floriana Imperati, Alessandra D’Amico, Philippe Parent, Laurent Pasquier, Valerie Layet, Stanislas Lyonnet, Veronique Stamboul-Darmency, Christel Thauvin-Robinet and Brunella Franco

    Citation: Orphanet Journal of Rare Diseases 2014 9:74

    Content type: Research

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  39. Conventional therapy for patients with maple syrup urine disease (MSUD) entails restriction of protein intake to maintain acceptable levels of the branched chain amino acid, leucine (LEU), monitored in blood. ...

    Authors: Kara R Vogel, Erland Arning, Brandi L Wasek, Sterling McPherson, Teodoro Bottiglieri and K Michael Gibson

    Citation: Orphanet Journal of Rare Diseases 2014 9:73

    Content type: Research

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  40. Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date...

    Authors: Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja…

    Citation: Orphanet Journal of Rare Diseases 2014 9:72

    Content type: Letter to the Editor

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  41. Pseudomyxoma peritonei (PMP, ORPHA26790) is a clinical syndrome characterized by progressive dissemination of mucinous tumors and mucinous ascites in the abdomen and pelvis. PMP is a rare disease with an estim...

    Authors: Afshin Amini, Samar Masoumi-Moghaddam, Anahid Ehteda and David Lawson Morris

    Citation: Orphanet Journal of Rare Diseases 2014 9:71

    Content type: Review

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  42. Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyski...

    Authors: Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin and Ingeborg Krägeloh-Mann

    Citation: Orphanet Journal of Rare Diseases 2014 9:70

    Content type: Research

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  43. Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2...

    Authors: Jun-ichi Satoh, Nobutaka Motohashi, Yoshihiro Kino, Tsuyoshi Ishida, Saburo Yagishita, Kenji Jinnai, Nobutaka Arai, Kiyotaka Nakamagoe, Akira Tamaoka, Yuko Saito and Kunimasa Arima

    Citation: Orphanet Journal of Rare Diseases 2014 9:68

    Content type: Research

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  44. The pathophysiologic mechanisms classically involved in sickle-cell nephropathy include endothelial dysfunction and vascular occlusion. Arguments demonstrating that ischemia-reperfusion injury-related kidney d...

    Authors: Vincent Audard, Stéphane Moutereau, Gaetana Vandemelebrouck, Anoosha Habibi, Mehdi Khellaf, Philippe Grimbert, Yves Levy, Sylvain Loric, Bertrand Renaud, Philippe Lang, Bertrand Godeau, Frédéric Galactéros and Pablo Bartolucci

    Citation: Orphanet Journal of Rare Diseases 2014 9:67

    Content type: Research

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  45. Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragme...

    Authors: Mohammad J Hosen, Paul J Coucke, Olivier Le Saux, Anne De Paepe and Olivier M Vanakker

    Citation: Orphanet Journal of Rare Diseases 2014 9:66

    Content type: Research

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  46. It is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the...

    Authors: Olivier Bonnot, Hans Hermann Klünemann, Frederic Sedel, Sylvie Tordjman, David Cohen and Mark Walterfang

    Citation: Orphanet Journal of Rare Diseases 2014 9:65

    Content type: Review

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  47. Niemann-Pick disease type C (NPC) is caused by defects in cholesterol efflux from lysosomes due to mutations of genes coding for NPC1 and NPC2 proteins. As a result, massive accumulation of unesterified choles...

    Authors: Katarzyna Kwiatkowska, Ewelina Marszałek–Sadowska, Gabriela Traczyk, Piotr Koprowski, Małgorzata Musielak, Agnieszka Ługowska, Magdalena Kulma, Anna Grzelczyk and Andrzej Sobota

    Citation: Orphanet Journal of Rare Diseases 2014 9:64

    Content type: Research

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  48. The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for over ...

    Authors: Amanda G Silva, Ana CV Krepischi, Peter L Pearson, Pierre Hainaut, Carla Rosenberg and Maria Isabel Achatz

    Citation: Orphanet Journal of Rare Diseases 2014 9:63

    Content type: Research

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