Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

BACKGROUND: Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disabi...

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Detalles Bibliográficos
Autores principales: Luco, Stephanie M., Pohl, Daniela, Sell, Erick, Wagner, Justin D., Dyment, David A., Daoud, Hussein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769499/
https://www.ncbi.nlm.nih.gov/pubmed/26922654
http://dx.doi.org/10.1186/s12881-016-0276-4

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