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...
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: | |
Online Access: | https://doi.org/10.1186/s12920-021-01089-5 |
Similar Items
-
Molar tooth sign − looking beyond the obvious
by: Nasreen Mahomed, et al.
Published: (2013-08-01) -
Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects
by: Heewon Seo, et al.
Published: (2018-01-01) -
MOLAR TOOTH SIGN - JOUBERT SYNDROME
by: Dušica Ranđelović, et al.
Published: (2015-09-01) -
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
by: Yue Shen, et al.
Published: (2020-10-01) -
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
by: Minna Luo, et al.
Published: (2019-12-01)