Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

@article{Bertola2007FurtherEO,
  title={Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene},
  author={D{\'e}bora Bertola and Alexandre da Costa Pereira and Amanda Salem Brasil and L{\'i}lian Maria Jos{\'e} Albano and Chong A E Kim and Jos{\'e} Eduardo Krieger},
  journal={Journal of Human Genetics},
  year={2007},
  volume={52},
  pages={521-526}
}
AbstractCostello syndrome is an autosomal dominant disorder comprising growth deficiency, mental retardation, curly hair, coarse facial features, nasal papillomata, low-set ears with large lobes, cardiac anomalies, redundant skin in palms and soles with prominent creases, dark skin, and propensity to certain solid tumors. HRAS mutations have been implicated in approximately 85% of the affected cases. The clinical overlap among Costello, Noonan, and cardiofaciocutaneous syndromes is now better… CONTINUE READING

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