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Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Prenatal diagnosis - 1 Aug 2024

Yu Qiu-Xia, Liu Na, Zhen Li, Lin Xiao-Mei, Wen Yun-Jing, Li Dong-Zhi

Abstract excerpt

OBJECTIVE: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS). METHODS: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing...

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PMID: 38840299
DOI: 10.1002/pd.6619

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