Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report

Subjects

Subjects :

heredodegenerative disorders, nervous system
gene
mutation
child
case reports
Neurology. Diseases of the nervous system
RC346-429

Details

Language :

English, Chinese

ISSN :

16726731

Volume :

23

Issue :

11

Database :

Directory of Open Access Journals

Journal :

Chinese Journal of Contemporary Neurology and Neurosurgery

Publication Type :

Academic Journal

Accession number :

edsdoj.7d1189d45d9f4fe8ae766b497ddc7548

Document Type :

article

Full Text :

https://doi.org/10.3969/j.issn.1672⁃6731.2023.11.015