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<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pablo; Monnot, Sophie; Ruiz-Perez, Victor L; Cormier-Daire, Valérie
  • 期刊名称Journal of Medical Genetics
  • 作者Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pablo; Monnot, Sophie; Ruiz-Perez, Victor L; Cormier-Daire, Valérie
  • 印刷ISSN0022-2593
  • 电子ISSN1468-6244
  • 文件大小1464.90KB
  • 发表时间2018-01-22
  • DOI10.1136/jmedgenet-2017-104999
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