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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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| 發表在: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2011
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| 主題: | |
| 在線閱讀: | 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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