Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

BACKGROUND: Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affected Joube...

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Detalles Bibliográficos
Autores principales: Chen, Chunyan, Gao, Jiong, Lv, Qing, Xu, Chen, Xia, Yu, Du, Ailian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502301/
https://www.ncbi.nlm.nih.gov/pubmed/34627237
http://dx.doi.org/10.1186/s12920-021-01089-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502301/
https://www.ncbi.nlm.nih.gov/pubmed/34627237
http://dx.doi.org/10.1186/s12920-021-01089-5

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