Familial Williams-Beuren syndrome showing varying clinical expression

American Journal of Medical Genetics

Volumn 98, Issue 4, 2001, Pages 324-329

  Pankau, Rainer ^a   Siebert, Reiner ^b   Kautza, Monika ^c   Schneppenheim, Reinhard ^b   Gosch, Angela ^d   Wessel, Armin ^e   Partsch, Carl Joachim ^e  

^a ST BERNWARD KRANKENHAUS   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Chromosome 7; Familial cases; Hemizygosity; Varying clinical expression; Williams Beuren syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 7; CHROMOSOME DELETION; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; HEMIZYGOSITY; HUMAN; KARYOTYPE; MONOZYGOTIC TWINS; MULTIGENE FAMILY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FAMILY HEALTH; FEMALE; HUMANS; INFANT; MALE; WILLIAMS SYNDROME;

EID: 0035253789     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5     Document Type: Article

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