Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encomp...
Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
About this item
Full title
Author / Creator
Banka, Siddharth , Cain, Stuart A , Carim, Sabrya , Daly, Sarah B , Urquhart, Jill E , Erdem, Günhan , Harris, Jade , Bottomley, Michelle , Donnai, Dian , Kerr, Bronwyn , Kingston, Helen , Superti-Furga, Andreas , Unger, Sheila , Ennis, Holly , Worthington, Jane , Herrick, Ariane L , Merry, Catherine L R , Yue, Wyatt W , Kielty, Cay M and Newman, William G
Publisher
England
Journal title
Language
English
Formats
Publication information
Publisher
England
Subjects
More information
Scope and Contents
Contents
Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phen...
Alternative Titles
Full title
Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
Authors, Artists and Contributors
Author / Creator
Cain, Stuart A
Carim, Sabrya
Daly, Sarah B
Urquhart, Jill E
Erdem, Günhan
Harris, Jade
Bottomley, Michelle
Donnai, Dian
Kerr, Bronwyn
Kingston, Helen
Superti-Furga, Andreas
Unger, Sheila
Ennis, Holly
Worthington, Jane
Herrick, Ariane L
Merry, Catherine L R
Yue, Wyatt W
Kielty, Cay M
Newman, William G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1808694781
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808694781
Other Identifiers
ISSN
0003-4967
E-ISSN
1468-2060
DOI
10.1136/annrheumdis-2013-204309
