Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

Woodhouse–Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progressive extrapyramidal syndrome. We identified a...

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Detalles Bibliográficos
Autores principales: Zhou, Min, Shi, Ningjie, Zheng, Juan, Chen, Yang, Wang, Siqi, Xiao, Kangli, Cui, Zhenhai, Qiu, Kangli, Zhu, Feng, Li, Huiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734028/
https://www.ncbi.nlm.nih.gov/pubmed/35002959
http://dx.doi.org/10.3389/fendo.2021.770871

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