Genetic analysis of a pedigree with MECP2 duplication syndrome in China

MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent...

Source: BMC Medical Genomics - February 19, 2024 Category: Genetics & Stem Cells Authors: Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin and Shuyao Zhu Tags: Research Source Type: research