FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

@article{Doyard2018FAM46AMA,
  title={FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta},
  author={Mathilde Doyard and S{\'e}verine Bacrot and C{\'e}line Huber and Maja Di Rocco and Alice Goldenberg and Mona S. Aglan and Perrine Brunelle and Samia Ali Temtamy and Caroline Michot and Ghada A. Otaify and Coralie Haudry and Mireille Castanet and Julien Leroux and J. -P. Bonnefont and Arnold Munnich and Genevi{\`e}ve Baujat and Pablo Lapunzina and Sophie Monnot and Victor L. Ruiz-Perez and Val{\'e}rie Cormier-Daire},
  journal={Journal of Medical Genetics},
  year={2018},
  volume={55},
  pages={278 - 284}
}
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 homozygosity for a FAM46A mutation in one case [p.Ser205Tyrfs*13]. The follow-up of this case… 
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