Article

Prenatal genetic diagnosis of Williams-Beuren syndrome with atypical and complex phenotypes using SNP array and whole exome sequencing

2024-05-13

Abstract excerpt

<title>Abstract</title> <p>Background Williams-Beuren syndrome (WBS) is a severe congenital disorder. Prenatal diagnosis of WBS is difficult because the phenotypes of WBS fetuses are atypical or incomplete. This study used ultrasound, SNP array, and whole exome sequencing to analyze the association between genotype and complex phenotype in fetuses with WBS. Methods Chromosomal microarray analysis (CMA) and whol...

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Literature Corpus work: 970b4a6b-479a-5fd0-911a-96832402fd68
DOI: 10.21203/rs.3.rs-4261789/v1

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