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Article

Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.

Medicine - 12 Aug 2022

Cai Meiying, Lin Min, Lin Na, Xu Liangpu, Huang Hailong

Abstract excerpt

BACKGROUND: The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, a retrospective study on 210 fetuses with congenital renal malformation was conducted. METHODS: The fetuses were diagnosed using invasive prenatal tests, including chromosome karyotype analysis, whole...

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Identifiers

PMID: 35960079
DOI: 10.1097/MD.0000000000030003
PMCID: PMC9371496

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