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[Atypical deletions in Williams-Beuren syndrome].

Revista medica del Instituto Mexicano del Seguro Social - 1 Jan 2000

Ramírez-Velazco Azubel, Domínguez-Quezada Ma Guadalupe

Abstract excerpt

The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and...

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PMID: 29193944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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