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Article

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

American journal of medical genetics. Part A - 1 Nov 2011

Ben-Omran Tawfeg, Ali Rehab, Almureikhi Mariam, Alameer Seham, Al-Saffar Muna, Walsh Christopher A, Felie Jillian M, Teebi Ahmad

Abstract excerpt

Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] 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 families have been reported so far. We report on an additional seven patients (four males and three females) from two...

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Identifiers

PMID: 21964978
DOI: 10.1002/ajmg.a.34219
PMCID: PMC6905109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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