First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review

Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-syndromic disease due to the lack of specific exter...

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Detalles Bibliográficos
Autores principales: Dong, Yan, Shi, Xiaoyi, Du, Kaixian, Xu, Ruijuan, Jia, Tianming, Wang, Jun, Wang, Lijun, Han, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243316/
https://www.ncbi.nlm.nih.gov/pubmed/34257719
http://dx.doi.org/10.3892/etm.2021.10339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243316/
https://www.ncbi.nlm.nih.gov/pubmed/34257719
http://dx.doi.org/10.3892/etm.2021.10339

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