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Article

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

Human genomics - 29 Jun 2020

Wang Xiang, Zhang Zhu, Zhang Xueguang, Shen Ying, Liu Hongqian

Abstract excerpt

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 sequencing, dozens of causative genes have been identified to JS so far. Here, we investigated two male siblings with JS and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32600475
DOI: 10.1186/s40246-020-00274-4
PMCID: PMC7325267

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