Inherited <scp>CSNK2A1</scp> variants in families with <scp>Okur‐Chung</scp> neurodevelopmental syndrome

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Authors

Newell Belnap · Translational Genomics Research Institute

Aiai Price‐Smith · Translational Genomics Research Institute

Keri Ramsey · Translational Genomics Research Institute

Kamawela Leka · Translational Genomics Research Institute

Anna Abraham · Translational Genomics Research Institute

Emma Lieberman · Translational Genomics Research Institute

Katie Hassett

Abstract

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.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Congenital heart defects research

Publication Details

Published in: Clinical Genetics

Volume 104, Issue 5, pp. 607-609

DOI: 10.1111/cge.14408

Field-Weighted Citation Impact: 2.53

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Inherited <scp>CSNK2A1</scp> variants in families with <scp>Okur‐Chung</scp> neurodevelopmental syndrome

Authors

Abstract

Topics & Keywords

Publication Details