Loeys-dietz syndrome

Advances in Experimental Medicine and Biology

Volumn 802, Issue , 2014, Pages 95-105

  Van Laer, Lut ^a   Dietz, Harry ^b   Loeys, Bart ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aortic aneurysm with tortuosity; Aortic dissection; Hypertelorism; Increased TGF signalling; Loeys Dietz syndrome; Mutations in TGFBR1; Overlap with Marfan and Ehlers Danlos syndrome; SMAD3 or TGFB2; TGFBR2

Indexed keywords

SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA2; ANGIOTENSIN RECEPTOR ANTAGONIST; LOSARTAN; NEUTRALIZING ANTIBODY; TRANSFORMING GROWTH FACTOR BETA NEUTRALIZING ANTIBODY; UNCLASSIFIED DRUG;

AORTA ANEURYSM; AORTA DISSECTION; ARTERIAL TORTUOSITY SYNDROME; ARTERY DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1; CARDIOVASCULAR DISEASE; CLEFT PALATE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; EHLERS DANLOS SYNDROME; GENE LOSS; GENE MUTATION; GENETIC CODE; HUMAN; HYPERTELORISM; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; MUSCULOSKELETAL DISEASE; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SKIN DISEASE; ANEURYSMS OSTEOARTHRITIS SYNDROME; AORTA SURGERY; ARACHNODACTYLY; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; DIAGNOSTIC CRITERIA; DISEASE CLASSIFICATION; EYE DISEASE; GENE DELETION; GENETIC ASSOCIATION; GENETIC COUNSELING; HISTOPATHOLOGY; HISTORY; HYDROCEPHALUS; INHERITANCE; JOINT LAXITY; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; NON SYNDROMIC DIFFERENTIAL DIAGNOSIS; NONSENSE MUTATION; OSTEOPOROSIS; PATHOGENESIS; SHPRINTZEN GOLDBERG SYNDROME; SKIN MANIFESTATION; SMAD3 GENE; SYMPTOM; SYNDROMIC DIFFERENTIAL DIAGNOSIS; TGFB2 GENE; TGFBR1 GENE; TGFBR2 GENE;

ADRENERGIC BETA-ANTAGONISTS; ANGIOTENSIN II TYPE 1 RECEPTOR BLOCKERS; ANTIBODIES, NEUTRALIZING; ARTERIES; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; GENE EXPRESSION REGULATION; GENES, DOMINANT; HUMANS; JOINT INSTABILITY; LOEYS-DIETZ SYNDROME; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; SKIN DISEASES, GENETIC; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA2; VASCULAR MALFORMATIONS;

EID: 84934438542     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-94-7-7893-1_7     Document Type: Article

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