The c.7409G>A (p.Cys2470Tyr) variant of FBN1: Phenotypic variability across three generations

Molecular Syndromology

Volumn 4, Issue 3, 2013, Pages 125-135

  Potter, K J ^a,b   Creighton, S ^a   Armstrong, L ^a,b   Eydoux, P ^c   Duncan, W ^c   Penny, D J ^d   Fan, Y ^d   Gibson, W T ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cardiovascular phenotype; Diagnostic criteria; FBN1; Marfan syndrome; Novel mutation

Indexed keywords

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHILD; CHROMOSOME DELETION 5; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; EXON; FEMALE; FIBRILLIN 1 GENE; GENE; GENETIC ASSOCIATION; HUMAN; MARFAN SYNDROME; MISSENSE MUTATION; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 84876236508     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000347163     Document Type: Article

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