Open AccessTwo novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
Author(s) -
Hui Yang,
Lin Song,
Shihui Guan,
Wanqi Wang,
Jiayi Li,
Gui-Dan Yang,
Suli Zhang
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i30.11016
Subject(s) - arthrogryposis , medicine , genetics , mutation , compound heterozygosity , exome sequencing , gene , genetic counseling , gene mutation , bioinformatics , biology