Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
对 33 例患者的 ADAMTSL2 基因进行分子筛查揭示了胶状骨发育不良的遗传异质性
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.2010.087544
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; Cormier-Daire, Valérie