Article
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
European journal of pediatrics - 1 Jun 1995
Kotzot D, Bernasconi F, Brecevic L, Robinson W P, Kiss P, Kosztolanyi G, Lurie I W, Superti-Furga A, Schinzel A
Abstract excerpt
UNLABELLED: To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1-30 years, using molecular analysis and/or fluorescent in situ hybridizati...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Case-Control Studies
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 7
- Developmental Disabilities
- Diagnosis, Differential
- Elastin
- Face
- Female
- Heart Defects, Congenital
- Humans
- Infant
- Male
- Pedigree