Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics

Objective·To identify the causative gene and mutations and describe the clinical traits in a Chinese diabetes pedigree suspected of Wolfram syndrome.Methods·A total of 12 subjects from one family were included. The proband was admitted to the Department of Endocrinology, The First Affiliated Hospita...

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Huvudupphov:	MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing
Materialtyp:	Artigo
Språk:	Chinês
Utgiven:	Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2023-07-01
Serie:	Shanghai Jiaotong Daxue xuebao. Yixue ban
Ämnen:	whole exome sequencing wolfram syndrome diabetes pedigree causative mutation
Länkar:	https://xuebao.shsmu.edu.cn/article/2023/1674-8115/1674-8115-2023-43-7-898.shtml
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