Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

European Journal of Human Genetics

Volumn 19, Issue 10, 2011, Pages 1108-1111

  Arslan Kirchner, Mine ^a   Epplen, Jörg T ^b   Faivre, Laurence ^c   Jondeau, Guillaume ^d   Schmidtke, Jörg ^a   De Paepe, Anne ^e   Loeys, Bart ^e  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c DIJON UNIVERSITY HOSPITAL   (France)

^d BICHAT HOSPITAL   (France)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; PROTEIN SERINE THREONINE KINASE; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ARTICLE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; PHENOTYPE; PREDICTIVE VALUE; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY ANALYSIS; CLEFT PALATE; GENETICS; HYPERTELORISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SENSITIVITY AND SPECIFICITY; THORACIC AORTA ANEURYSM;

ABNORMALITIES, MULTIPLE; AORTIC ANEURYSM, THORACIC; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; HYPERTELORISM; LOEYS-DIETZ SYNDROME; MARFAN SYNDROME; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SENSITIVITY AND SPECIFICITY;

EID: 80053054089     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.68     Document Type: Article

References (14)

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