Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 1070-

  Arslan Kirchner, Mine ^a   Arbustini, Eloisa ^b   Boileau, Catherine ^c   Child, Anne ^d   Collod Beroud, Gwenaelle ^e   De Paepe, Anne ^f   Epplen, Jörg ^g   Jondeau, Guillaume ^h   Loeys, Bart ^f   Faivre, Laurence ⁱ  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Centro Malattie Genetiche Cardiovascolari   (Italy)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g RUHR UNIVERSITY BOCHUM   (Germany)

^h BICHAT HOSPITAL   (France)

ⁱ DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 22Q; CHROMOSOME 22Q11.2 DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL ASSESSMENT; DIFFERENTIAL DIAGNOSIS; DIGEORGE SYNDROME; GENE; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC SCREENING; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; SEDLACKOVA SYNDROME; SHORT SURVEY; SHPRINTZEN SYNDROME; TAKAO SYNDROME; TBX1 GENE; VELOCARDIOFACIAL SYNDROME; ARTICLE; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MARFAN SYNDROME; PHENOTYPE; SENSITIVITY AND SPECIFICITY; VALIDATION STUDY;

ACTIN BINDING PROTEIN; FIBRILLIN;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PHENOTYPE; SENSITIVITY AND SPECIFICITY;

EID: 77955981762     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.42     Document Type: Short Survey

References (33)

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