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

Journal article

Open access

Peer reviewed

Laura E Meissner, Ellen F Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Carlos R Ferreira, Wadih M Zein, Cynthia J Tifft and David R Adams

Molecular genetics & genomic medicine, Vol.8(12), pp.e1544-n/a

2020-12

PMID: 33159716

Abstract

microcephaly

feeding difficulties

autosomal dominant mental retardation 7

DYRK1A

Clinical Report

Down syndrome

Clinical Reports

Two patients diagnosed with DYRK1A Syndrome in the Undiagnosed Diseases Program with ophthalmologic abnormalities not previously described.

url

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

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.136 Autism & Development Disorders; 1.136.1749 Down Syndrome
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
Creators: Laura E Meissner - National Human Genome Research Institute
Ellen F Macnamara - The Common Fund
Precilla D'Souza - National Human Genome Research Institute
John Yang - The Common Fund
Gilbert Vezina - Children's National Health System
Carlos R Ferreira - National Human Genome Research Institute
Wadih M Zein - National Eye Institute
Cynthia J Tifft - National Human Genome Research Institute
David R Adams - National Human Genome Research Institute
Publication Details: Molecular genetics & genomic medicine, Vol.8(12), pp.e1544-n/a
Publisher: John Wiley and Sons Inc; Hoboken
Grant note: ; 1ZIAHG000215‐17 / ; NIH Common Fund
Language: English
Resource Type: Journal article
PMID: 33159716
Record Identifier: 991031576359002976