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

Affiliations

YANG Chang⁃jian: Department of Pediatric Neurogenetics and Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, China
JIANG Da⁃fei: Department of Pediatric Neurogenetics and Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, China
LI Ren⁃ke: Department of Pediatric Neurogenetics and Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, China
SHU Xiao⁃mei: Department of Pediatric Neurogenetics and Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, China

Abstract

No abstracts available.

ISSN: 1672-6731 (Print)
Publisher: Tianjin Huanhu Hospital
Country of publisher: China
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: http://www.cjcnn.org/index.php/cjcnn