Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

European Journal of Human Genetics

Volumn 9, Issue 1, 2001, Pages 13-21

  Tiecke, Frank ^a   Katzke, Stefanie ^a   Booms, Patrick ^a   Robinson, Peter N ^a   Neumann, Luitgard ^b   Godfrey, Maurice ^c   Mathews, Kurt R ^c   Scheuner, Maren ^d   Hinkel, Georg Klaus ^e   Brenner, Rolf E ^f   Hövels Gürich, Hedwig H ^g   Hagemeier, Christian ^a   Fuchs, Josefine ^h   Skovby, Flemming ⁱ   Rosenberg, Thomas ^h  

^a Department of General Pediatrics   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^f UNIVERSITY OF ULM   (Germany)

^g RWTH AACHEN UNIVERSITY   (Germany)

^h JOHN F KENNEDY INSTITUTE   (Denmark)

ⁱ Rigshospitalet   (Denmark)

Author keywords

Fibrillin; Genotype phenotype correlation; Marfan syndrome; Temperature gradient gel electrophoresis (TGGE)

Indexed keywords

FIBRILLIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR SYSTEM; CHILD; CLINICAL FEATURE; CONNECTIVE TISSUE; DISEASE SEVERITY; EXON; EYE; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MEDICAL DOCUMENTATION; NEWBORN; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; PUBLICATION; SCREENING; SKELETON;

EID: 0035141446     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200582     Document Type: Article

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