Clinical and genetic characteristics of 36 children with Joubert syndrome

BACKGROUND AND AIMS: Joubert 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 clinical...

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Detalles Bibliográficos
Autores principales: Dong, Yan, Zhang, Ke, Yao, He, Jia, Tianming, Wang, Jun, Zhu, Dengna, Xu, Falin, Cheng, Meiying, Zhao, Shichao, Shi, Xiaoyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401045/
https://www.ncbi.nlm.nih.gov/pubmed/37547106
http://dx.doi.org/10.3389/fped.2023.1102639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401045/
https://www.ncbi.nlm.nih.gov/pubmed/37547106
http://dx.doi.org/10.3389/fped.2023.1102639

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