Article

Genetic analysis of a pedigree with MECP2 duplication syndrome in China

2023-04-20

Abstract excerpt

<h4>Background: </h4> MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, characterized by delayed or absent speech development, severe motor and cognitive impairment and recurrent respiratory infections, is caused by duplication of the chromosomal region located on chromosome Xq28, containing the methyl CpG binding protein-2 ( MECP2 ) gene. MECP2 acts as a transcripti...

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Literature Corpus work: 6d7a69bb-f14f-561b-9f86-d90ee35870b0
DOI: 10.21203/rs.3.rs-2627402/v1

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