DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Abstract Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from d...

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Bibliographic Details
Main Authors: Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal dominant mental retardation 7
Down syndrome
DYRK1A
feeding difficulties
microcephaly
Online Access:https://doi.org/10.1002/mgg3.1544

Internet

https://doi.org/10.1002/mgg3.1544

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