Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic...
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
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Author / Creator
Allali, Slimane , Le Goff, Carine , Pressac–Diebold, Isabelle , Pfennig, Gwendoline , Mahaut, Clémentine , Dagoneau, Nathalie , Alanay, Yasemin , Brady, Angela F , Crow, Yanick J , Devriendt, Koen , Drouin-Garraud, Valérie , Flori, Elisabeth , Geneviève, David , Hennekam, Raoul C , Hurst, Jane , Krakow, Deborah , Le Merrer, Martine , Lichtenbelt, Klaske D , Lynch, Sally A , Lyonnet, Stanislas , MacDermot, Kay , Mansour, Sahar , Megarbané, André , Santos, Heloisa G , Splitt, Miranda , Superti-Furga, Andrea , Unger, Sheila , Williams, Denise , Munnich, Arnold and Cormier-Daire, Valérie
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
London: BMJ Publishing Group Ltd
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More information
Scope and Contents
Contents
BackgroundGeleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene o...
Alternative Titles
Full title
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Authors, Artists and Contributors
Author / Creator
Le Goff, Carine
Pressac–Diebold, Isabelle
Pfennig, Gwendoline
Mahaut, Clémentine
Dagoneau, Nathalie
Alanay, Yasemin
Brady, Angela F
Crow, Yanick J
Devriendt, Koen
Drouin-Garraud, Valérie
Flori, Elisabeth
Geneviève, David
Hennekam, Raoul C
Hurst, Jane
Krakow, Deborah
Le Merrer, Martine
Lichtenbelt, Klaske D
Lynch, Sally A
Lyonnet, Stanislas
MacDermot, Kay
Mansour, Sahar
Megarbané, André
Santos, Heloisa G
Splitt, Miranda
Superti-Furga, Andrea
Unger, Sheila
Williams, Denise
Munnich, Arnold
Cormier-Daire, Valérie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4413937
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4413937
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2010.087544
