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Article

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

Journal of genetics and genomics = Yi chuan xue bao - 20 Oct 2012

Honjo Rachel Sayuri, Dutra Roberta Lelis, Nunes Michele Moreira, Gomy Israel, Kulikowski Leslie Domenici, Jehee Fernanda Sarquis, Kim Chong Ae

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23089367
DOI: 10.1016/j.jgg.2012.07.001

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Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.PMID 23089367Read ↗

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.Semantic proximity Read ↗

[Atypical deletions in Williams-Beuren syndrome].Semantic proximity Read ↗

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High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype.Semantic proximity Read ↗

[Genotype and phenotype analysis of two patients with Williams syndrome].Semantic proximity Read ↗

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.Semantic proximity Read ↗

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.Semantic proximity Read ↗

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