Severe neonatal manifestations of Costello syndrome.

  title={Severe neonatal manifestations of Costello syndrome.},
  author={Ivan Fai-man Lo and Carole Brewer and Nora L Shannon and Jennifer Shorto and Beisha Tang and Graham Black and M T Soo and Daniel S K Ng and Stephen Tak-sum Lam and Bronwyn A. Kerr},
  journal={Journal of medical genetics},
  volume={45 3},
BACKGROUND Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. A small number of less common mutations have been reported. POPULATION STUDIED HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS. A HRAS mutation was found in 27 patients, 15 of whom have been previously reported. PHENOTYPE ANALYSIS: Four cases had an unusually… CONTINUE READING


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