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Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

28 Jun 2022

Abstract excerpt

BACKGROUND: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome. METHODS: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our...

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PMID: 35765027
DOI: 10.1186/s13039-022-00604-2

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