A novel non-sense variant in the OFD1 gene caused Joubert syndrome

A novel non-sense variant in the OFD1 gene caused Joubert syndrome

Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology. Therefore, it is difficult to make a definite prenatal diagnosis.Methods: Whole...

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Bibliographic Details
Main Authors: Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu, Ying Xiong, Chaoxiang Yang, Yan Zhang, Jing Wu, Aihua Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
Joubert syndrome
OFD1
novel non-sense variant
MRI
whole exome sequencing (WES)
RNA-seq
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1064762/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1064762/full

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