Mutations in fibrillin-1 cause congenital scleroderma: Stiff skin syndrome

Science Translational Medicine

Volumn 2, Issue 23, 2010, Pages

  Loeys, B L ^a,b   Gerber, E E ^a   Riegert Johnson, D ^c   Iqbal, S ^d   Whiteman, P ^d   McConnell, V ^e   Chillakuri, C R ^f   Macaya, D ^g   Coucke, P J ^b   Paepe, A De ^b   Judge, D P ^a   Wigley, F ^a   Davis, E C ^h   Mardon, H J ^f   Handford, P ^d   Keene, D R ⁱ   Sakai, L Y ⁱ   Dietz, H C ^a  

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

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^g GENEDX   (United States)

^h MCGILL UNIVERSITY   (Canada)

ⁱ SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; ELASTIN; FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CELL ADHESION; CELL INTERACTION; CELL SPREADING; CLINICAL FEATURE; CONTROLLED STUDY; EPITHELIAL MESENCHYMAL TRANSITION; EXTRACELLULAR MATRIX; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOPATHOGENESIS; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCLERODERMA; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SKIN DISEASE; STIFF SKIN SYNDROME; SYSTEMIC SCLEROSIS;

BIOPSY; CELL ADHESION; CELL MOVEMENT; COLLAGEN; DNA MUTATIONAL ANALYSIS; ELASTIN; EXTRACELLULAR MATRIX; FAMILY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MESODERM; MICROFIBRILS; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; SCLERODERMA, SYSTEMIC; SIGNAL TRANSDUCTION; SKIN; SYNDROME; TRANSFORMING GROWTH FACTOR BETA;

EID: 77952974791     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3000488     Document Type: Article

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