The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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Author / Creator
Barat-Houari, Mouna , Dumont, Bruno , Fabre, Aurélie , Them, Frédéric Tm , Alembik, Yves , Alessandri, Jean-Luc , Amiel, Jeanne , Audebert, Séverine , Baumann-Morel, Clarisse , Blanchet, Patricia , Bieth, Eric , Brechard, Marie , Busa, Tiffany , Calvas, Patrick , Capri, Yline , Cartault, François , Chassaing, Nicolas , Ciorca, Vidrica , Coubes, Christine , David, Albert , Delezoide, Anne-Lise , Dupin-Deguine, Delphine , El Chehadeh, Salima , Faivre, Laurence , Giuliano, Fabienne , Goldenberg, Alice , Isidor, Bertrand , Jacquemont, Marie-Line , Julia, Sophie , Kaplan, Josseline , Lacombe, Didier , Lebrun, Marine , Marlin, Sandrine , Martin-Coignard, Dominique , Martinovic, Jelena , Masurel, Alice , Melki, Judith , Mozelle-Nivoix, Monique , Nguyen, Karine , Odent, Sylvie , Philip, Nicole , Pinson, Lucile , Plessis, Ghislaine , Quélin, Chloé , Shaeffer, Elise , Sigaudy, Sabine , Thauvin, Christel , Till, Marianne , Touraine, Renaud , Vigneron, Jacqueline , Baujat, Geneviève , Cormier-Daire, Valérie , Le Merrer, Martine , Geneviève, David and Touitou, Isabelle
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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More information
Scope and Contents
Contents
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before mo...
Alternative Titles
Full title
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Authors, Artists and Contributors
Author / Creator
Dumont, Bruno
Fabre, Aurélie
Them, Frédéric Tm
Alembik, Yves
Alessandri, Jean-Luc
Amiel, Jeanne
Audebert, Séverine
Baumann-Morel, Clarisse
Blanchet, Patricia
Bieth, Eric
Brechard, Marie
Busa, Tiffany
Calvas, Patrick
Capri, Yline
Cartault, François
Chassaing, Nicolas
Ciorca, Vidrica
Coubes, Christine
David, Albert
Delezoide, Anne-Lise
Dupin-Deguine, Delphine
El Chehadeh, Salima
Faivre, Laurence
Giuliano, Fabienne
Goldenberg, Alice
Isidor, Bertrand
Jacquemont, Marie-Line
Julia, Sophie
Kaplan, Josseline
Lacombe, Didier
Lebrun, Marine
Marlin, Sandrine
Martin-Coignard, Dominique
Martinovic, Jelena
Masurel, Alice
Melki, Judith
Mozelle-Nivoix, Monique
Nguyen, Karine
Odent, Sylvie
Philip, Nicole
Pinson, Lucile
Plessis, Ghislaine
Quélin, Chloé
Shaeffer, Elise
Sigaudy, Sabine
Thauvin, Christel
Till, Marianne
Touraine, Renaud
Vigneron, Jacqueline
Baujat, Geneviève
Cormier-Daire, Valérie
Le Merrer, Martine
Geneviève, David
Touitou, Isabelle
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5070901
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5070901
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.250
