Open AccessNovel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report
Author(s) -
Lin Song,
Jin-Hua Feng,
Liping Sun,
Hongyu Ma,
Wanqi Wang,
Jiayi Li
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.i6.1889
Subject(s) - sanger sequencing , medicine , genetics , compound heterozygosity , mutation , gene , dna sequencing , genetic diagnosis , gene mutation , genotype , biology
This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition.