A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. Some studies...

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Detalles Bibliográficos
Autores principales: Qiao, Fengchang, Shao, Binbin, Wang, Chen, Wang, Yan, Zhou, Ran, Liu, Gang, Meng, Lulu, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877748/
https://www.ncbi.nlm.nih.gov/pubmed/31803247
http://dx.doi.org/10.3389/fgene.2019.01194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877748/
https://www.ncbi.nlm.nih.gov/pubmed/31803247
http://dx.doi.org/10.3389/fgene.2019.01194

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