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  1. Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-depe...

    Authors: Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp…
    Citation: Orphanet Journal of Rare Diseases 2012 7:70
  2. Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding ...

    Authors: Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner and Knut Brockmann
    Citation: Orphanet Journal of Rare Diseases 2012 7:69
  3. Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be a...

    Authors: Lijia Huang, Jodi Warman-Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman and Kym M Boycott
    Citation: Orphanet Journal of Rare Diseases 2012 7:67

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:143

  4. We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 – fu...

    Authors: Bernadette Kalman, Ronald Lautenschlaeger, Florian Kohlmayer, Boriana Büchner, Thomas Kmiec, Thomas Klopstock and Klaus A Kuhn
    Citation: Orphanet Journal of Rare Diseases 2012 7:66
  5. The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malforma...

    Authors: Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Sandra Weih, Stuart Hosie, Peter Reifferscheid, Helen Ameis, Christina Kujath, Anke Rißmann, Florian Obermayr, Nicole Schwarzer, Enrika Bartels…
    Citation: Orphanet Journal of Rare Diseases 2012 7:65
  6. The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV1 and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care....

    Authors: Pierre-Yves Boëlle, Laura Viviani, Pierre-Francois Busson, Hanne V Olesen, Sophie Ravilly, Martin Stern, Baroukh M Assael, Celeste Barreto, Pavel Drevinek, Muriel Thomas, Uros Krivec, Meir Mei-Zahav, Jean-François Vibert, Annick Clement, Anil Mehta and Harriet Corvol
    Citation: Orphanet Journal of Rare Diseases 2012 7:64
  7. Resources for rare diseases are lacking. Patients do not have the information and support that they need, and researchers struggle to make progress due to a shortage of skills and collaborations within the fie...

    Authors: Vicki L Colledge and John Solly
    Citation: Orphanet Journal of Rare Diseases 2012 7:63
  8. To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath ...

    Authors: Emilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein and Sylvie Bastuji-Garin
    Citation: Orphanet Journal of Rare Diseases 2012 7:62
  9. Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a no...

    Authors: Mahesh Kappanayil, Sheela Nampoothiri, Rajesh Kannan, Marjolijn Renard, Paul Coucke, Fransiska Malfait, Swapna Menon, Hiran K Ravindran, Renu Kurup, Muhammad Faiyaz-Ul-Haque, Krishna Kumar and Anne De Paepe
    Citation: Orphanet Journal of Rare Diseases 2012 7:61
  10. Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been ...

    Authors: Jeong-In Baek, Se-Kyung Oh, Dong-Bin Kim, Soo-Young Choi, Un-Kyung Kim, Kyu-Yup Lee and Sang-Heun Lee
    Citation: Orphanet Journal of Rare Diseases 2012 7:60
  11. Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese fa...

    Authors: Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann and Hanno Jörn Bolz
    Citation: Orphanet Journal of Rare Diseases 2012 7:59
  12. Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA survei...

    Authors: Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia, Nadège Debreuck, Gonzague Berte, Kamel Mamchaoui, Vincent Mouly, Dieter C Gruenert, Benoit Déprez and Fabrice Lejeune
    Citation: Orphanet Journal of Rare Diseases 2012 7:58
  13. Uveitis is an autoimmune disease of the eye that refers to any of a number of intraocular inflammatory conditions. Because it is a rare disease, uveitis is often overlooked, and the possible associations betwe...

    Authors: Talin Barisani-Asenbauer, Saskia M Maca, Lamiss Mejdoubi, Wolfgang Emminger, Klaus Machold and Herbert Auer
    Citation: Orphanet Journal of Rare Diseases 2012 7:57
  14. Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported...

    Authors: Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi and Albert de la Chapelle
    Citation: Orphanet Journal of Rare Diseases 2012 7:56
  15. Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology a...

    Authors: Yazhou Cui, Heng Zhao, Zhenxing Liu, Chao Liu, Jing Luan, Xiaoyan Zhou and Jinxiang Han
    Citation: Orphanet Journal of Rare Diseases 2012 7:55
  16. AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) (most commonly of lambda isotype) usually secreted by a small plasma cell clone. Most pa...

    Authors: Estelle Desport, Frank Bridoux, Christophe Sirac, Sébastien Delbes, Sébastien Bender, Béatrice Fernandez, Nathalie Quellard, Corinne Lacombe, Jean-Michel Goujon, David Lavergne, Julie Abraham, Guy Touchard, Jean-Paul Fermand and Arnaud Jaccard
    Citation: Orphanet Journal of Rare Diseases 2012 7:54
  17. Web-based interventions are effective on the patient empowerment. Guiametabolica.org constitutes an interface for people involved in inherited metabolic diseases, trying to facilitate access to information and co...

    Authors: Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc Palau and Mercedes Serrano
    Citation: Orphanet Journal of Rare Diseases 2012 7:53
  18. Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...

    Authors: Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi and Sonia Abdelhak
    Citation: Orphanet Journal of Rare Diseases 2012 7:52
  19. X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the tran...

    Authors: Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg and Bwee Tien Poll-The
    Citation: Orphanet Journal of Rare Diseases 2012 7:51
  20. Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress ...

    Authors: Caron Molster, Leanne Youngs, Emma Hammond and Hugh Dawkins
    Citation: Orphanet Journal of Rare Diseases 2012 7:50
  21. Various antigen-specific immunoassays are available for the serological diagnosis of autoimmune bullous diseases. However, a spectrum of different tissue-based and monovalent antigen-specific assays is require...

    Authors: Nina van Beek, Kristin Rentzsch, Christian Probst, Lars Komorowski, Michael Kasperkiewicz, Kai Fechner, Inga M Bloecker, Detlef Zillikens, Winfried Stöcker and Enno Schmidt
    Citation: Orphanet Journal of Rare Diseases 2012 7:49
  22. Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many cri...

    Authors: Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth O’Gorman, Farrukh A Chaudhry and Tawfeg Ben-Omran
    Citation: Orphanet Journal of Rare Diseases 2012 7:48
  23. Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and d...

    Authors: Clara D M van Karnebeek, Roderick F A Houben, Mirafe Lafek, Wynona Giannasi and Sylvia Stockler
    Citation: Orphanet Journal of Rare Diseases 2012 7:47
  24. Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. Th...

    Authors: Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier and Dan Milea
    Citation: Orphanet Journal of Rare Diseases 2012 7:46
  25. Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in t...

    Authors: Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler and Elisabeth Le Rumeur
    Citation: Orphanet Journal of Rare Diseases 2012 7:45
  26. Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 ...

    Authors: Thomas J Jaworek, Tasleem Kausar, Shannon M Bell, Nabeela Tariq, Muhammad Imran Maqsood, Asma Sohail, Muhmmmad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S Shaikh and Zubair M Ahmed
    Citation: Orphanet Journal of Rare Diseases 2012 7:44
  27. SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behav...

    Authors: Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini and Giovanni Cioni
    Citation: Orphanet Journal of Rare Diseases 2012 7:43
  28. Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 ...

    Authors: María Alba-Domínguez, Alberto López-Lera, Sofía Garrido, Pilar Nozal, Ignacio González-Granado, Josefa Melero, Pere Soler-Palacín, Carmen Cámara and Margarita López-Trascasa
    Citation: Orphanet Journal of Rare Diseases 2012 7:42
  29. Cushing’s disease, or pituitary ACTH dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity,...

    Authors: Frederic Castinetti, Isabelle Morange, Bernard Conte-Devolx and Thierry Brue
    Citation: Orphanet Journal of Rare Diseases 2012 7:41
  30. Interstitial lung diseases (ILDs) in children represent a heterogeneous group of rare respiratory disorders that affect the lung parenchyma. After the launch of the French Reference Centre for Rare Lung Diseas...

    Authors: Nadia Nathan, Rola Abou Taam, Ralph Epaud, Christophe Delacourt, Antoine Deschildre, Philippe Reix, Raphaël Chiron, Ulrika de Pontbriand, Jacques Brouard, Michaël Fayon, Jean-Christophe Dubus, Lisa Giovannini-Chami, François Bremont, Katia Bessaci, Cyril Schweitzer, Marie-Laure Dalphin…
    Citation: Orphanet Journal of Rare Diseases 2012 7:40
  31. With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will continue for at least the next several years. At pr...

    Authors: Chandree L Beaulieu, Mark E Samuels, Sean Ekins, Christopher R McMaster, Aled M Edwards, Adrian R Krainer, Geoffrey G Hicks, Brendan J Frey, Kym M Boycott and Alex E MacKenzie
    Citation: Orphanet Journal of Rare Diseases 2012 7:39
  32. Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are...

    Authors: Alice K Tanner, Ephrem L H Chin, Patricia K Duffner and Madhuri Hegde
    Citation: Orphanet Journal of Rare Diseases 2012 7:38
  33. The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Networ...

    Authors: Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele D’Amico, Maria Rosaria D’Apice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori…
    Citation: Orphanet Journal of Rare Diseases 2012 7:37
  34. Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients...

    Authors: Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, Brigitte Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, François Labarthe, Hélène Maurey, Jean-Marie Cuisset, Thierry Billette de Villemeur, Frédéric Sedel and Marie T Vanier
    Citation: Orphanet Journal of Rare Diseases 2012 7:36
  35. Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of a...

    Authors: Andreas Herzog, Ralf Hartung, Arnold J J Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck and Eugen Mengel
    Citation: Orphanet Journal of Rare Diseases 2012 7:35
  36. Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI hav...

    Authors: Taro Muto, Keiko Miyoshi, Taigo Horiguchi, Hiroko Hagita and Takafumi Noma
    Citation: Orphanet Journal of Rare Diseases 2012 7:34
  37. The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer from considerable diagnostic delay, mainly due to...

    Authors: Paola Pierucci, Gennaro M Lenato, Patrizia Suppressa, Patrizia Lastella, Vincenzo Triggiani, Raffaella Valerio, Mario Comelli, Daniela Salvante, Alessandro Stella, Nicoletta Resta, Giancarlo Logroscino, Francesco Resta and Carlo Sabbà
    Citation: Orphanet Journal of Rare Diseases 2012 7:33
  38. Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one ...

    Authors: Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2012 7:32
  39. Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phe...

    Authors: Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K Otfried Schwab, Bridget Wilcken, Brian Fowler…
    Citation: Orphanet Journal of Rare Diseases 2012 7:31
  40. Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCA...

    Authors: Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders, Hans R Waterham, Dirk-Jan Reijngoud and Terry G J Derks
    Citation: Orphanet Journal of Rare Diseases 2012 7:30
  41. Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on...

    Authors: Maria E Papadaki, Steven A Lietman, Michael A Levine, Bjorn R Olsen, Leonard B Kaban and Ernst J Reichenberger
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S6

    This article is part of a Supplement: Volume 7 Supplement 1

  42. Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe fa...

    Authors: Ernst J Reichenberger, Michael A Levine, Bjorn R Olsen, Maria E Papadaki and Steven A Lietman
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S5

    This article is part of a Supplement: Volume 7 Supplement 1

  43. Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent pre...

    Authors: Michael T Collins, Frederick R Singer and Erica Eugster
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S4

    This article is part of a Supplement: Volume 7 Supplement 1

  44. One of the most common complications of fibrous dysplasia of bone (FD) is bone pain. Usual pain killers are often of inadequate efficacy to control this bone pain. The mechanism of bone pain in FD remains unce...

    Authors: Roland D Chapurlat, Deborah Gensburger, Juan M Jimenez-Andrade, Joseph R Ghilardi, Marilyn Kelly and Patrick Mantyh
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S3

    This article is part of a Supplement: Volume 7 Supplement 1

  45. Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells ...

    Authors: JS Lee, EJ FitzGibbon, YR Chen, HJ Kim, LR Lustig, SO Akintoye, MT Collins and LB Kaban
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S2

    This article is part of a Supplement: Volume 7 Supplement 1

  46. The surgical management of Polyostotic Fibrous Dysplasia (FD) of bone is technically demanding. The most effective methods to manage the associated bone deformity remain unclear. The marked variation in the de...

    Authors: Robert P Stanton, Ernesto Ippolito, Dempsey Springfield, Lynn Lindaman, Shlomo Wientroub and Arabella Leet
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S1

    This article is part of a Supplement: Volume 7 Supplement 1

  47. Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin ...

    Authors: A-Rembert Koczulla, Danny Jonigk, Thomas Wolf, Christian Herr, Sarah Noeske, Walter Klepetko, Claus Vogelmeier, Nils von Neuhoff, Johanna Rische, Sabine Wrenger, Heiko Golpon, Robert Voswinckel, Maurizio Luisetti, Ilaria Ferrarotti, Tobias Welte and Sabina Janciauskiene
    Citation: Orphanet Journal of Rare Diseases 2012 7:29
  48. Fanconi Anemia (FA) is a rare genetic disorder, characterized by progressive bone marrow failure and increased predisposition to cancer. Despite being highly heterogeneous, all FA patients are hypersensitive t...

    Authors: Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot, Félix Carvalho and Beatriz Porto
    Citation: Orphanet Journal of Rare Diseases 2012 7:28
  49. We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.

    Authors: Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson and Lihadh Al-Gazali
    Citation: Orphanet Journal of Rare Diseases 2012 7:27