Work

Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome

Year: 2023

Type: article

Study design: Observational Study

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.

Source: Clinical Genetics

DOI: 10.1111/cge.14408

Authors: 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

Institutions: Translational Genomics Research Institute, University of Alabama at Birmingham, Deventer Ziekenhuis

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,740

OpenAlex ID: W4385263735

FWCI: 1.59

Cites: 4

Cited by: 10

Related to: 10