A genetic variant in the MAST1 gene is associated with mega ‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus

ConclusionThis study is the first prenatal case ofMAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of theMAST1 gene.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2358?af=R

Source: Molecular Genetics & Genomic Medicine - January 12, 2024 Category: Genetics & Stem Cells Authors: Sheng Yi, Xianglian Tang, Fei Chen, Linlin Wang, Junjie Chen, Zuojian Yang, Minpan Huang, Shang Yi, Limei Huang, Qi Yang, Shuihua Yang, Pingshan Pan, Zailong Qin, Jingsi Luo Tags: ORIGINAL ARTICLE Source Type: research