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Novel disease loci
Original Article
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Authors

  • Mathilde Doyard Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Séverine Bacrot Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Céline Huber Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Maja Di Rocco Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genova, Italy PubMed articlesGoogle scholar articles
  • Alice Goldenberg Department of Genetics, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Rouen, France PubMed articlesGoogle scholar articles
  • Mona S Aglan Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Perrine Brunelle Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Samia Temtamy Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Caroline Michot Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Ghada A Otaify Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Coralie Haudry Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Mireille Castanet Department of Pediatric, CHU de Rouen, Rouen, France PubMed articlesGoogle scholar articles
  • Julien Leroux Department of Pediatric Surgery, CHU de Rouen, Rouen, France PubMed articlesGoogle scholar articles
  • Jean-Paul Bonnefont Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Arnold Munnich Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Geneviève Baujat Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Pablo Lapunzina Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Sophie Monnot Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  • Victor L Ruiz-Perez CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain Instituto de Investigaciones Biomédicas de Madrid, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain PubMed articlesGoogle scholar articles
  • Valérie Cormier-Daire Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Victor L Ruiz-Perez, CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain; vlruiz{at}iib.uam.es and Professor Valérie Cormier-Daire, Département of Genetics, INSERM U1193, Paris Descartes University, Instititut Imagine, Hôpital Necker-Enfants Malades, Paris 75015, France; valerie.cormier-daire{at}inserm.fr
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Citation

Doyard M, Bacrot S, Huber C, et al
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Journal of Medical Genetics 2018;55:278-284.

Publication history

  • Received August 24, 2017
  • Revised November 14, 2017
  • Accepted December 7, 2017
  • First published January 22, 2018.
Online issue publication 
March 22, 2018

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