Table of contents

April 2018 - Volume 55 - 4

Position statement

Diagnostics

Cancer genetics

Biochemical genetics

Screening

Genome-wide studies

Novel disease loci

  • FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
    (22 January, 2018)
    Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire

Electronic pages