Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy

Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy

Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.

Bibliographic Details
Main Authors: Weiran Li, Xiaowei Lu, Jianbo Shu, Yingzi Cai, Dong Li, Chunquan Cai
Format: Article
Language:English
Published: Georg Thieme Verlag KG 2024-01-01
Series:Global Medical Genetics
Subjects:
CEP152
compound-heterozygous
variants
phenotypes
WES
Sanger sequencing
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777807

Similar Items

Similar Items