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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.
Affiliation
  • Doyard M; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Bacrot S; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Huber C; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genova, Italy.
  • Goldenberg A; Department of Genetics, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Rouen, France.
  • Aglan MS; Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Brunelle P; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Temtamy S; Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Michot C; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Otaify GA; Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Haudry C; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Castanet M; Department of Pediatric, CHU de Rouen, Rouen, France.
  • Leroux J; Department of Pediatric Surgery, CHU de Rouen, Rouen, France.
  • Bonnefont JP; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Munnich A; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Baujat G; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.
  • Monnot S; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain.
  • Ruiz-Perez VL; Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Cormier-Daire V; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain.
J Med Genet ; 55(4): 278-284, 2018 04.
Article in En | MEDLINE | ID: mdl-29358272
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoblasts / Osteogenesis Imperfecta / Proteins / Exome Sequencing Limits: Animals / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2018 Document type: Article Affiliation country: France
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoblasts / Osteogenesis Imperfecta / Proteins / Exome Sequencing Limits: Animals / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2018 Document type: Article Affiliation country: France