Min Zhou Ningjie Shi Juan Zheng Yang Chen Siqi Wang Kangli Xiao Zhenhai Cui Kangli Qiu Feng Zhu Huiqing Li
10.3389/fendo.2021.770871
Front Endocrinol (Lausanne)
2021 Dec 23;12:770871.
woodhouse–sakati syndrome alopecia diabetes hypogonadism intellectual disability
CC BY
https://pubmed.ncbi.nlm.nih.gov/35002959/
Alopecia / genetics Arrhythmias, Cardiac / genetics Basal Ganglia Diseases / genetics Diabetes Mellitus / genetics Hypogonadism / genetics Intellectual Disability / genetics Nuclear Proteins / genetics Sequence Deletion Ubiquitin-Protein Ligase Complexes / genetics
Alopecia / genetics Arrhythmias, Cardiac / genetics Basal Ganglia Diseases / genetics Diabetes Mellitus / genetics Hypogonadism / genetics Intellectual Disability / genetics Nuclear Proteins / genetics Sequence Deletion Ubiquitin-Protein Ligase Complexes / genetics Case Reports Research Support, Non-U.S. Gov't Adult China Exome Sequencing Female Humans Male Pedigree DCAF17 protein, human Nuclear Proteins Ubiquitin-Protein Ligase Complexes Woodhouse Sakati syndrome
PMC8734028
35002959
Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
2021