A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome-a case report

Jiang, MY; Yang, LL; Wu, JH; Xiong, F; Li, JR

Li, JR (corresponding author), 20 Sect 3,Renmin South Rd, Chengdu, Peoples R China.

TRANSLATIONAL PEDIATRICS, 2021; 10 (6): 1748

Abstract

Arboleda-Tham syndrome (OMIM#616268) is a newly named neurodevelopmental disorder, which is an autosomal dominant hereditary disease characterized by ......

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