Article
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
Journal of medical genetics - 1 Apr 2018
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
Abstract excerpt
BACKGROUND: Stüve-Wiedemann syndrome (SWS) is characterised by bowing of the lower limbs, respiratory distress and hyperthermia that are often responsible for early death. Survivors develop progressive scoliosis and spontaneous fractures. We previously identified LIFR mutations in most SWS cases, but absence of LIFR pathogenic changes in five patients led us to perform exome sequencing and to identify...
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