Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the DCAF17 gene as an inherited disease. DCAF17 plays an important role in mammalian gonad...

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Bibliographic Details
Main Authors: Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Houdi Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
diabetes mellitus
hypogonadism
alopecia
woodhouse-Sakati syndrome
DCAF17
deletion mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.741323/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.741323/full

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