Autosomal recessive LMNA mutation causing restrictive dermopathy.

@article{Youn2010AutosomalRL,
  title={Autosomal recessive LMNA mutation causing restrictive dermopathy.},
  author={Gi Jung Youn and Merujan Y Uzunyan and Luc Vachon and Jerry Johnson and Tom L Winder and Shoji Yano},
  journal={Clinical genetics},
  year={2010},
  volume={78 2},
  pages={199-200}
}
To the Editor : Restrictive dermopathy (OMIM 275210) is a rare lethal genetic disorder that is characterized by congenital tautness of the skin causing fetal akinesia or hypokinesia deformation sequence, characteristic facial features (small mouth, small pinched nose, and micrognathia), bone mineralization defects including thin, dysplastic clavicles, and pulmonary hypoplasia. Patients usually die immediately after birth or may struggle to survive for several weeks (1). Navarro et al. (2… CONTINUE READING

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