DYRK1A Syndrome.
van Bon BWM, Coe BP, de Vries BBA, Eichler EE.
van Bon BWM, et al.
2015 Dec 17 [updated 2021 Mar 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2015 Dec 17 [updated 2021 Mar 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 26677511
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Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported. DIAGNOSIS/TESTING: The diagnosis of DYRK1A syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in DYRK1A identified by molecular genetic …
Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported. DIAGNOSIS/TESTING: The diagnosis of DYRK1A syndrome …