Article

Combined MECP2 duplication syndrome and ADNP syndrome in a Chinese boy: a case report and literature review

2023-07-31

Abstract excerpt

<h4>Background: </h4> Methyl-CpG-binding protein 2 (MECP2) acts as a transcriptional repressor or activator regulating the genes associated with nerve system development. The increased copy number of MECP2 can cause a new X‑linked intellectual disability syndrome named MECP2 duplication syndrome (MDS), which is characterized by a broad range of neurodevelopmental abnormalities, as well as hypotonia, recurrent resp...

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Literature Corpus work: f0c892ac-0a60-500f-9c3d-5dd126c5fe8b
DOI: 10.21203/rs.3.rs-3148449/v1

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