Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Annals of the Rheumatic Diseases

Volumn 74, Issue 6, 2015, Pages 1249-1256

  Banka, Siddharth ^a,b   Cain, Stuart A ^c   Carim, Sabrya ^a   Daly, Sarah B ^a   Urquhart, Jill E ^a   Erdem, Günhan ^a,d   Harris, Jade ^b   Bottomley, Michelle ^b   Donnai, Dian ^a,b   Kerr, Bronwyn ^a,b   Kingston, Helen ^b   Superti Furga, Andreas ^e   Unger, Sheila ^e   Ennis, Holly ^f   Worthington, Jane ^f,g   Herrick, Ariane L ^g   Merry, Catherine L R ^f   Yue, Wyatt W ^h   Kielty, Cay M ^c   Newman, William G ^a,b   Kvien, Tore K ⁱ   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d ÇANAKKALE ONSEKIZ MART UNIVERSITY   (Turkey)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g Manchester Communication Academy   (United Kingdom)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 6; SMAD6 PROTEIN; SYNDECAN 2; TRANSFORMING GROWTH FACTOR BETA; GDF6 PROTEIN, HUMAN; SDC2 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; CHILD; CHROMOSOME 8Q; CHROMOSOME DUPLICATION; COHORT ANALYSIS; EXTRACELLULAR MATRIX; FEMALE; GDF6 GENE; GENE; GENE OVEREXPRESSION; GENETIC VARIABILITY; GENOME; GENOTYPE; HUMAN; HUMAN TISSUE; LERI PLEONOSTEOSIS; MALE; MIDDLE AGED; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RHEUMATIC DISEASE; SDC2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SYSTEMIC SCLEROSIS; WESTERN BLOTTING; YOUNG ADULT; CHROMOSOME 8; FACIES; FIBROBLAST; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENETICS; HAND MALFORMATION; HETEROTOPIC OSSIFICATION; INFANT; JOINT DISEASES; METABOLISM; PATHOPHYSIOLOGY; SIGNAL TRANSDUCTION;

ADULT; AGED; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; EXTRACELLULAR MATRIX; FACIES; FEMALE; FIBROBLASTS; GENE DUPLICATION; GENE EXPRESSION PROFILING; GROWTH DIFFERENTIATION FACTOR 6; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; JOINT DISEASES; MALE; MIDDLE AGED; OSSIFICATION, HETEROTOPIC; PHENOTYPE; SCLERODERMA, SYSTEMIC; SIGNAL TRANSDUCTION; SYNDECAN-2; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84934965666     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2013-204309     Document Type: Article

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