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Article

Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.

Annals of human genetics - 1 Nov 2018

Ghaffari Mahsa, Tahmasebi Birgani Maryam, Kariminejad Roxana, Saberi Alihossein

Abstract excerpt

Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clinical diagnosis of WBS using fluorescent in situ hybridization or array comparative genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30155880
DOI: 10.1111/ahg.12278

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