FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., Haudry, C., Castanet, M., Leroux, J., Bonnefont, J.-P., Munnich, A., Baujat, G., Lapunzina, P., Monnot, S., Ruiz-Perez, V. L., Cormier-Daire, V.
BMJ Publishing Group
Published 2018