Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7

BACKGROUND: Intellectual developmental disorder 7 (also named DYRK1A syndrome) is an autosomal dominant disease. The main clinical features of DYRK1A syndrome include intellectual disability, microcephaly, and developmental delay. This study aimed to identify pathogenic variants in a Chinese girl wi...

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Detalles Bibliográficos
Autores principales: Zhou, Cong, Zhu, Hongmei, Xiang, Qinqin, Mai, Jingqun, Wang, Xihan, Wang, Jing, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235440/
https://www.ncbi.nlm.nih.gov/pubmed/37274198
http://dx.doi.org/10.3389/fnins.2023.1174925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235440/
https://www.ncbi.nlm.nih.gov/pubmed/37274198
http://dx.doi.org/10.3389/fnins.2023.1174925

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