Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

American Journal of Medical Genetics

Volumn 86, Issue 1, 1999, Pages 34-43

  Wang, Michael S ^a   Schinzel, Albert ^b   Kotzot, Dieter ^b   Balmer, Damina ^b   Casey, Robin ^c   Chodirker, Bernie N ^d   Gyftodimou, Jolanda ^e   Petersen, Michael B ^e   Lopez Rangel, Elana ^f   Robinson, Wendy P ^a  

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

^d UNIVERSITY OF MANITOBA   (Canada)

^e Institute of Child Health   (Greece)

^f BC Res Inst Children's W ^*

Author keywords

Elastin; Imprinting; LIM kinase 1; Supravalvular aortic stenosis; Williams Beuren syndrome

Indexed keywords

DNA; ELASTIN; PHOSPHOTRANSFERASE;

ALLELE; ARTICLE; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENOME IMPRINTING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; WILLIAMS BEUREN SYNDROME;

EID: 0032792734     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<34::AID-AJMG7>3.0.CO;2-4     Document Type: Article

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