Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

@article{Girisha2010CostelloSW,
  title={Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.},
  author={Katta Mohan Girisha and Leslie Edward Lewis and Shubha R. Phadke and Kerstin Kutsche},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 11},
  pages={2861-4}
}
Costello syndrome is a rare developmental disorder characterized by coarse face, postnatal growth retardation, skin and musculoskeletal anomalies, cardiovascular abnormalities, mental retardation, and tumor predisposition. Dermatological manifestations usually include redundant, soft and thickened skin. Loose skin is especially present over the neck, hands, and feet. Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most… CONTINUE READING
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Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

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