A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

BACKGROUND: Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign”, and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chine...

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Detalles Bibliográficos
Autores principales: Li, Qian, Liu, Qianying, Liu, Suwen, Yu, Lichun, Yang, Zhenle, Wang, Cong, Wang, Jing, Sun, Shuzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666333/
https://www.ncbi.nlm.nih.gov/pubmed/37993833
http://dx.doi.org/10.1186/s12887-023-04415-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666333/
https://www.ncbi.nlm.nih.gov/pubmed/37993833
http://dx.doi.org/10.1186/s12887-023-04415-1

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