MECP2 Duplication Syndrome in a Patient from Cameroon

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder, caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intel...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Tekendo-Ngongang, Cedrik, Dahoun, Sophie, Nguefack, Séraphin, Moix, Isabelle, Zambo, Huguette, Morris, Michael. A, Béna, Frédérique, Wonkam, Ambroise
Format: Artigo
Sprog:Inglês
Udgivet: 2020
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7450984/
https://ncbi.nlm.nih.gov/pubmed/32052928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61510
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