Article

Identification of a Novel Homozygous Nonsense Mutation in a Fetus with Bardet-Biedl Syndrome

2021-11-01

Abstract excerpt

<h4>Background: </h4> Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder with clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, we reported the intrauterine phenotype and molecular characterizations of a fetus with BBS. <h4>Methods: </h4>: Chromosome karyotype analysis, whole exome sequencing (WES), and a single nucleotide polymo...

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Literature Corpus work: 5eb35316-920a-56d0-a56a-c27729a252a4
DOI: 10.21203/rs.3.rs-967831/v1

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