Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

@article{Wierzba2012CorneliaDL,
  title={Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual},
  author={J. Wierzba and M. Gil-Rodr{\'i}guez and A. Polucha and B. Puisac and M. Arnedo and M. E. Teresa-Rodrigo and D. Winnicka and F. G. Hegardt and F. Ramos and J. Limon and J. Pi{\'e}},
  journal={BMC Medical Genetics},
  year={2012},
  volume={13},
  pages={43 - 43}
}
  • J. Wierzba, M. Gil-Rodríguez, +8 authors J. Pié
  • Published 2012
  • Biology, Medicine
  • BMC Medical Genetics
  • BackgroundCornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. [...] Key Result The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems.Expand Abstract
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