Williams-Beuren syndrome: historical aspects

Autor:	Walter E. Berdon, Rita L. Teele, Patricia M. Clarkson
Rok vydání:	2010
Předmět:	Diagnostic Imaging Williams Syndrome congenital hereditary and neonatal diseases and abnormalities Williams-beuren syndrome medicine.medical_specialty business.industry History 20th Century medicine.disease History 21st Century humanities Genealogy Germany Internal medicine Pediatrics Perinatology and Child Health Cardiology Humans Medicine Radiology Nuclear Medicine and imaging Williams syndrome business Physical Examination Supravalvular aortic stenosis Chromosomal Deletion New Zealand
Zdroj:	Pediatric Radiology. 41:262-266
ISSN:	1432-1998 0301-0449
Popis:	Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7589bb257d06f465abfdcb51d983c7b https://doi.org/10.1007/s00247-010-1908-z Zobrazit plný text záznamu Full text from SpringerLink