Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Genetics in Medicine

Volumn 16, Issue 3, 2014, Pages 246-250

  Stheneur, Chantal ^a,b   Tubach, Florence ^a,c   Jouneaux, Marlène ^b   Roy, Carine ^a   Benoist, Gregoire ^b,d   Chevallier, Bertrand ^a,b,d   Boileau, Catherine ^a,b,d,e   Jondeau, Guillaume ^a,c,e  

^a BICHAT HOSPITAL   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^e INSERM   (France)

Author keywords

Childhood; FBN1; International criteria; Marfan syndrome

Indexed keywords

FIBRILLIN 1; ACTIN BINDING PROTEIN; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FIBRILLIN;

ADOLESCENT; AGING; ARTERY DILATATION; ARTICLE; BETA ADRENERGIC RECEPTOR BLOCKING; BODY HEIGHT; CHILD; ECTOPIA LENTIS; EVOLUTION; FEMALE; FLATFOOT; FOLLOW UP; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; SCOLIOSIS; STRIA; WRIST DISEASE; AORTA; COHORT ANALYSIS; DIFFERENTIAL DIAGNOSIS; DILATATION, PATHOLOGIC; GENETIC SCREENING; GENETICS; INFANT; MUTATION; PATHOLOGY; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; STATISTICS AND NUMERICAL DATA;

ADOLESCENT; ADRENERGIC BETA-ANTAGONISTS; AORTA; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; DILATATION, PATHOLOGIC; ECTOPIA LENTIS; FEMALE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84895828601     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.123     Document Type: Article

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