Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki ...

Source: BMC Pediatrics - February 19, 2024 Category: Pediatrics Authors: Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang and Xiumin Wang Tags: Research Source Type: research