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

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

Abstract 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 affect...

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Bibliographic Details
Main Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia, Ailian Du
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Medical Genomics
Subjects:
Joubert syndrome
AHI1 gene
Whole exome sequence
3D structure
Case report
Online Access:https://doi.org/10.1186/s12920-021-01089-5

Internet

https://doi.org/10.1186/s12920-021-01089-5

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