Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family

Clin Dysmorphol. 2024 Jul 1;33(3):121-124. doi: 10.1097/MCD.0000000000000502. Epub 2024 May 16.

Authors

Himanshu Goel^{1

2}, Sheridan O'Donnell¹

Affiliations

¹ General Genetics Service, Hunter Genetics, Waratah, NSW, Australia.
² School of Medicine and Public Health, University of Newcastle, Callaghan, NSW, Australia.

PMID: 38818820
DOI: 10.1097/MCD.0000000000000502

No abstract available

Publication types

Case Reports

MeSH terms

Casein Kinase II* / genetics
Child
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Loss of Function Mutation
Male
Pedigree
Phenotype

Substances

Casein Kinase II