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

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 de novo h...

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Detalles Bibliográficos
Autores principales: Meissner, Laura E., Macnamara, Ellen F., D'Souza, Precilla, Yang, John, Vezina, Gilbert, Ferreira, Carlos R., Zein, Wadih M., Tifft, Cynthia J., Adams, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767569/
https://www.ncbi.nlm.nih.gov/pubmed/33159716
http://dx.doi.org/10.1002/mgg3.1544

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