ArticleJCEM case reports2024
Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.
Article in JCEM case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide.Cureus · 2026Article
- Novel variants associated with premature ovarian insufficiency in Russian adolescents.Frontiers in endocrinology · 2025Article
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Authors and funding
4 authors.
Funding
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Abstract
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. This report focuses on a new genetic variant detected in 2 WSS-affected sisters with distinctive phenotypical features. The case under review is of special interest due to the multiple manifestations of WSS. This is the first family case of WSS identified in the Russian Federation. Although there is no specific treatment for WSS, genetic testing makes it possible to diagnose WSS, make a prognosis, and provide comprehensive patient-oriented treatment.
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