Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome

Zhao, XY; Yu, TT; Tang, J; Yao, RE; Li, N; Wang, J

Wang, J (通讯作者)，Shanghai Jiaotong Univ Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Mol Diagnost Lab, Shanghai, Peoples R China.

NEUROGENETICS, 2023; 24 (2): 95

Abstract

KDM3B is located on chromosome 5q31 and encodes KDM3B, which is involved in histone demethylation and epigenetic regulation. Pathogenic KDM3B variants......

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