Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language r...

Full description

Bibliographic Details
Main Authors: Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Pediatrics
Subjects:
CSPP1
Joubert syndrome
pathogenic mechanism
developmental delay
microcephaly
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1305754/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1305754/full

Similar Items