Genetic analysis of a pedigree with MECP2 duplication syndrome in China

• Main Authors: Lan Zeng (Author), Hui Zhu (Author), Jin Wang (Author), Qiyan Wang (Author), Ying Pang (Author), Zemin Luo (Author), Ai Chen (Author), Shengfang Qin (Author), Shuyao Zhu (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 respiratory infections. MDS is caused by the duplication of a chrom...