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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Belnap, Newell; Price-Smith, Aiai; Ramsey, Keri; Leka, Kamawela; Abraham, Anna; Lieberman, Emma; Hassett, Katie; Potu, Sai; Rudy, Natasha; Smith, Kirstin; Mikhail, Fady M; Monaghan, Kirstin G; Hendershot, Andrea; Mourmans, Jeroen; Descartes, Maria; Huentelman, Matthew J; Sills, Jennifer; Rangasamy, Sampath; Narayanan, Vinodh.

Clin Genet ; 104(5): 607-609, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37491870

RESUMEN

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.

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