Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families with a Mutation in the C2orf37 Gene

Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also known as Woodhouse-Sakati syndrome) is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 familie...

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Published in:Am J Med Genet A
Main Authors: Ben-Omran, Tawfeg, Ali, Rehab, Almureikhi, Mariam, Alameer, Seham, Al-Saffar, Muna, Walsh, Christopher A., Felie, Jillian M., Teebi, Ahmad
Format: Artigo
Language:Inglês
Published: 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6905109/
https://ncbi.nlm.nih.gov/pubmed/21964978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34219
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