Year: 2016
Type: article
Study design: Case Report
Abstract: Williams-Beuren syndrome (WBS) is a multisystem genomic disorder, caused by deletion on chromosome region 7q11.23. Majority of cases occur sporadically, and a few familial cases have been described. We report on the first case of WBS in three relatives in three generations with maternally transmission of the microdeletion. Intrafamilial variability of the clinical features was shown.
Authors: М. Хурс, В А Румянцева, David Kulak, В. Наумчик, Л. Зобикова, А. Громыко
Language: Russian
Topic: Williams Syndrome Research
Subfield: Developmental Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2619092601