DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Awamleh, Z; Chater-Diehl, E; Choufani, S; Wei, E; Kianmahd, RR; Yu, AN; Chad, L; Costain, G; Tan, WH; Scherer, SW; Arboleda, VA; Russell, BE; Weksberg, R

Weksberg, R (通讯作者)，Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON, Canada.;Weksberg, R (通讯作者)，Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada.;Weksberg, R (通讯作者)，Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Weksberg, R (通讯作者)，Univ Toronto, Inst Med Sci, Toronto, ON, Canada.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022; 30 (6): 695

Abstract

The additional sex combs-like (ASXL) gene family-encoded by ASXL1, ASXL2, and ASXL3-is crucial for mammalian development. Pathogenic variants in the A......

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