Identification of a de novo variant in the ASXL2 gene related to Shashi ‐Pena syndrome

ConclusionsOur study further expanded the spectrum of phenotypes and genetic variations of the syndrome, and we believe that it is necessary to screen theASXL2 gene in patients with DD and cardiac and bone disorders.

Source: Molecular Genetics & Genomic Medicine - July 26, 2023 Category: Genetics & Stem Cells Authors: Yanyan Zheng, Le Yang, Mengmeng Niu, Siyu Zhao, Lili Liang, Yan Wu, Taoli Li, Fan Yang, Zuozhen Yang, Yan Wang, Dong Wang Tags: ORIGINAL ARTICLE Source Type: research