Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report

Lin, SZ; Feng, JH; Sun, LP; Ma, HW; Wang, WQ; Li, JY

Lin, SZ (通讯作者),Changchun Univ Chinese Med, Affiliated Hosp 1, Diag & Treatment Ctr Children, 1478 Gongnong Rd, Changchun 130021, Jilin, Peoples R China.

WORLD JOURNAL OF CLINICAL CASES, 2022; 10 (6): 1889

Abstract

BACKGROUND This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge......

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