The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype

European Journal of Human Genetics

Volumn 24, Issue 7, 2016, Pages 992-1000

  Barat Houari, Mouna ^a,b   Dumont, Bruno ^a   Fabre, Aurélie ^a   Them, Frédéric Tm ^c   Alembik, Yves ^d   Alessandri, Jean Luc ^e   Amiel, Jeanne ^f   Audebert, Séverine ^g   Baumann Morel, Clarisse ^h   Blanchet, Patricia ^c   Bieth, Eric ⁱ   Brechard, Marie ^j   Busa, Tiffany ^k   Calvas, Patrick ⁱ   Capri, Yline ^h   Cartault, François ^e   Chassaing, Nicolas ⁱ   Ciorca, Vidrica ^l   Coubes, Christine ^c   David, Albert ^m   Delezoide, Anne Lise ^h   Dupin Deguine, Delphine ⁱ   El Chehadeh, Salima ⁿ   Faivre, Laurence ⁿ   Giuliano, Fabienne ^o   Goldenberg, Alice ^p   Isidor, Bertrand ^m   Jacquemont, Marie Line ^q   Julia, Sophie ⁱ   Kaplan, Josseline ^f   Lacombe, Didier ^r   Lebrun, Marine ^s   Marlin, Sandrine ^t   Martin Coignard, Dominique ^u   Martinovic, Jelena ^v   Masurel, Alice ⁿ   Melki, Judith ^w   Mozelle Nivoix, Monique ^x   Nguyen, Karine ^k   Odent, Sylvie ^y   Philip, Nicole ^k   Pinson, Lucile ^c   Plessis, Ghislaine ^z   Quélin, Chloé ^y   Shaeffer, Elise ^d   Sigaudy, Sabine ^k   Thauvin, Christel ⁿ   Till, Marianne ^aa   Touraine, Renaud ^s   Vigneron, Jacqueline ^ab   Baujat, Geneviève ^f   Cormier Daire, Valérie ^f   Le Merrer, Martine ^f   Geneviève, David ^b,c,ac   Touitou, Isabelle ^a,b,ac   more..

^a UNIVERSITÉ DE MONTPELLIER   (France)

^b INSERM   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d HÔPITAL DE HAUTEPIERRE   (France)

^e Microbiology/Virology Laboratory   (France)

^f IMAGINE INSTITUTE   (France)

^g CHU MORVAN   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ CHU PURPAN   (France)

^j HÔPITAL SAINT JOSEPH   (France)

^k TIMONE HOSPITAL   (France)

^l UNIVERSITY HOSPITAL OF NANCY   (France)

^m NANTES UNIVERSITY HOSPITAL   (France)

ⁿ Medical University of Dijon   (France)

^o CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^p HÔPITAL CHARLES NICOLLE   (France)

^q Department of Pediatric Surgery   (France)

^r HÔPITAL PELLEGRIN   (France)

^s CHU Hôpital Nord   (France)

^t ARMAND TROUSSEAU HOSPITAL   (France)

^u CENTRE HOSPITALIER DU MANS   (France)

^v HÔPITAL ANTOINE BÉCLÈRE   (France)

^w BICÊTRE HOSPITAL   (France)

^x Unité de Génétique Cytogénétique CHU de Troyes   (France)

^y RENNES UNIVERSITY HOSPITAL   (France)

^z CAEN UNIVERSITY HOSPITAL   (France)

^aa Groupement Hospitalier Est   (France)

^ab Maternite Regionale Universitaire   (France)

^ac UNIV MONTPELLIER   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COLLAGEN; CYSTEINE; GLYCINE; COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2;

ARTICLE; BONE DYSPLASIA; COL2A1 GENE; DYSPLASIA; GENE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KNIEST DYSPLASIA; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; AMINO ACID SUBSTITUTION; ARTHRITIS; CHEMISTRY; CHONDRODYSPLASIA; COLLAGEN DISEASE; CONNECTIVE TISSUE DISEASE; FEMALE; GENETICS; MALE; PATHOLOGY; PEDIGREE; PERCEPTION DEAFNESS; PROTEIN DOMAIN; RETINA DETACHMENT;

AMINO ACID SUBSTITUTION; ARTHRITIS; COLLAGEN DISEASES; COLLAGEN TYPE II; CONNECTIVE TISSUE DISEASES; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; PROTEIN DOMAINS; RETINAL DETACHMENT;

EID: 84949034584     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.250     Document Type: Article

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