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Article

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

Clinical genetics - 1 Nov 2023

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

Abstract excerpt

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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Source

Identifiers

PMID: 37491870
DOI: 10.1111/cge.14408

Genes

CSNK2A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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