Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybrid...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Dutra, Roberta Lelis, de Campos Pieri, Patrícia, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2011
Soggetti:
Clinical Science
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3129970/
https://ncbi.nlm.nih.gov/pubmed/21808859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1807-59322011000600007
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi