Williams-Beuren syndrome: Phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 986-992

  Joyce, C A ^a   Zorich, B ^b   Pike, S J ^a   Barber, J C K ^a   Dennis, N R ^c  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b NATIONAL HEALTH SERVICE   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

11q; 22q; Williams Beuren syndrome

Indexed keywords

ELASTIN;

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CHROMOSOME 11Q; CHROMOSOME 22; CHROMOSOME 7; CHROMOSOME DELETION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; WILLIAMS BEUREN SYNDROME;

EID: 0030469498     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.986     Document Type: Article

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