Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 408-410

  Breckpot, Jeroen ^a   Budts, Werner ^a   De Zegher, Francis ^a   Vermeesch, Joris R ^a   Devriendt, Koenraad ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

22q13 deletion; 9q duplication; Array CGH; Bifid uvula; Loeys Dietz syndrome; TGFBR1

Indexed keywords

SMAD2 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADOLESCENT; ANEURYSM; AORTA DISSECTION; ARTERY DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 22Q; CLEFT PALATE; DELAYED PUBERTY; FACE DYSMORPHIA; GENE; GENE DOSAGE; GENE DUPLICATION; GENE MUTATION; HUMAN; HYPERTELORISM; KARYOTYPING; LOEYS DIETZ SYNDROME; MALE; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; SIGNAL TRANSDUCTION; TGFBR 1 GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANEURYSM, DISSECTING; AORTIC ANEURYSM; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; GENE DUPLICATION; HAND DEFORMITIES, CONGENITAL; HUMANS; LOEYS-DIETZ SYNDROME; MALE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA;

EID: 78349311903     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.08.004     Document Type: Article

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