The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype-Reference-Cited by-同舟云学术

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

Published:2015-12-02 Issue:7 Volume:24 Page:992-1000
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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,Touitou Isabelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015250.pdf

Reference34 articles.

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2. Richards AJ, Laidlaw M, Whittaker J et al: High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat 2006; 27: 696–704.

3. Pallares-Ruiz N, Philibert L, Dumont B et al: Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes? PloS One 2010; 5: e14096.

4. Mortier GR, Weis M, Nuytinck L et al: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet 2000; 37: 263–271.

5. Tysoe C, Saunders J, White L et al: A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. QJM 2003; 96: 663–671.

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