Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Abstract Background Joubert syndrome (JS) is a rare genetic disorder, which can be defined by brain stem malformation, cerebellar vermis hypoplasia, and consequent “molar tooth sign” (MTS). JS always shares variety of phenotypes in development defects. With the development of next-generation sequenc...

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Bibliographic Details
Main Authors: Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Human Genomics
Subjects:
Joubert syndrome
Copy number variation
Compound heterozygous variants
WES
CGH
Online Access:http://link.springer.com/article/10.1186/s40246-020-00274-4

Internet

http://link.springer.com/article/10.1186/s40246-020-00274-4

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