Genetic analysis of a pedigree with MECP2 duplication syndrome in China

Genetic analysis of a pedigree with MECP2 duplication syndrome in China

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...

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Bibliographic Details
Main Authors: Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Medical Genomics
Subjects:
MECP2
Mental retardation
Hypoevolutism
MECP2 duplication syndrome
Copy number variation sequencing
Online Access:https://doi.org/10.1186/s12920-024-01831-9

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