Genetic dissection of Marfan syndrome and related connective tissue disorders: An update 2012

Molecular Syndromology

Volumn 3, Issue 2, 2012, Pages 47-58

  Hoffjan, S ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Connective tissue disorders; Ehlers Danlos syndrome; Loeys Dietz syndrome; Marfan syndrome

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; FIBRILLIN 2; NOTCH1 RECEPTOR; SMAD2 PROTEIN; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

AORTA DISSECTION; BICUSPID AORTIC VALVE; CLINICAL PRACTICE; CONNECTIVE TISSUE DISEASE; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; EHLERS DANLOS SYNDROME; FOLLOW UP; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETICS; HUMAN; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MUTATIONAL ANALYSIS; MYOPIA; NONHUMAN; NUCLEAR MAGNETIC RESONANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RETINA DETACHMENT; REVIEW; SEGREGATION ANALYSIS; SIGNAL TRANSDUCTION; SKIN BIOPSY; SMOOTH MUSCLE FIBER; THORACIC AORTA ANEURYSM;

EID: 84865328448     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000339441     Document Type: Review

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