Recent progress towards a molecular understanding of Marfan syndrome

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 139 C, Issue 1, 2005, Pages 4-9

  Dietz, Harry C ^a,b   Loeys, Bart ^a   Carta, Luca ^c   Ramirez, Francesco ^d  

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

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d CHILD HEALTH INSTITUTE OF NEW JERSEY   (United States)

Author keywords

Aortic aneurysm; Connective tissue disorder; Fibrillin; Marfan syndrome; TGF signaling

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA;

AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR SYSTEM; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; EXTRACELLULAR SPACE; EYE; FIBER; GENE MUTATION; GENETIC TRAIT; HOMOZYGOSITY; HUMAN; MARFAN SYNDROME; NONHUMAN; PLEIOTROPY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SKELETON;

ANIMALS; HUMANS; MARFAN SYNDROME; MICE; MICROFIBRILS; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE; SIGNAL TRANSDUCTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 28444470470     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30068     Document Type: Review

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