
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
Author(s) -
Jia-Xi Fang,
Jin-Shi Zhang,
Min-Min Wang,
Lin Liu
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.i20.7068
Subject(s) - medicine , proband , aunt , sensorineural hearing loss , family history , alport syndrome , daughter , chinese family , sanger sequencing , hearing loss , genetic testing , pediatrics , pathology , mutation , genetics , kidney , glomerulonephritis , audiology , gene , evolutionary biology , sociology , anthropology , biology