Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

@article{CoronaRivera2009AbnormalOS,
  title={Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in St{\"u}ve-Wiedemann syndrome.},
  author={J. Rom{\'a}n Corona-Rivera and Val{\'e}rie Cormier-Daire and Nathalie Dagoneau and Pedro Coello-Ram{\'i}rez and Eloy L{\'o}pez-Marure and Carmen O. Romo-Huerta and H{\'e}ctor Silva-B{\'a}ez and Liuba M. Aguirre-Salas and Mar{\'i}a In{\'e}s Estrada-Solorio},
  journal={European journal of medical genetics},
  year={2009},
  volume={52 4},
  pages={
          242-6
        }
}
Stü ve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. [...] Key ResultsMolecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. Expand Abstract

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