Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families...

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Autors principals: Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2008
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668059/
https://ncbi.nlm.nih.gov/pubmed/19026396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.018
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