Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis

Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disa...

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Bibliographic Details
Main Authors: Fiona Whitaker, Alvaro Serrano
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2024/2926555
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