Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundAcromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill–Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent tra...
Alternative Titles
Full title
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1808706680
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808706680
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103647
