Article

Novel Biallelic Loss-of-Function Variants in CEP290 Cause Joubert Syndrome in Two Siblings

2020-01-20

Abstract excerpt

<title>Abstract</title> <p>BackgroundJoubert Syndrome (JS) is a rare genetic disorder, which can be defined by brainstem 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 a JS case in t...

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Literature Corpus work: 4c4159f5-86cd-53fc-85d4-3887521a8a65
DOI: 10.21203/rs.2.21259/v1

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