Article

Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in Fetus with Congenital Renal Malformation

2021-11-29

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. <h4>Method: </h4> Here, a retrospective study of 210 fetuses with congenital renal malformation was performed. These fetuses were performed invasive prenatal diagnosis. Chromosome karyotype analysis, whole exo...

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Literature Corpus work: b8720139-4720-51e2-b329-f48cc245f477
DOI: 10.21203/rs.3.rs-1052435/v1

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