Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

Author:

Ferrero Giovanni Battista,Biamino Elisa,Sorasio Lorena,Banaudi Elena,Peruzzi Licia,Forzano Serena,Verdun di Cantogno Ludovica,Silengo Margherita Cirillo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference50 articles.

1. Mutational mechanisms of Williams–Beuren syndrome deletions;Bayes;Am. J. Hum. Genet.,2003

2. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation;Beuren;Birth Defects Orig. Art. Ser.,1972

3. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome;Broder;Am. J. Med. Genet.,1999

4. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes;Botta;J. Med. Genet.,1999

5. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome;Cambiaso;J. Pediatr.,2007

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