Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome

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

CLINICAL GENETICS（2023）

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摘要

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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关键词

casein kinase 2, inherited variants, Okur-Chung neurodevelopmental syndrome, variable expressivity

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