Clinical and genetic characteristics of 36 children with Joubert syndrome

Clinical and genetic characteristics of 36 children with Joubert syndrome

Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically...

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Bibliographic Details
Main Authors: Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Pediatrics
Subjects:
Joubert syndrome
ataxia
hypotonia
genetics
whole exon sequencing
molar tooth sign
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1102639/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1102639/full

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