Article
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
American journal of medical genetics. Part A - 1 Mar 2009
Piccione Maria, Piro Ettore, Pomponi Maria Grazia, Matina Federico, Pietrobono Roberta, Candela Eva, Gabriele Bruna, Neri Giovanni, Corsello Giovanni
Abstract excerpt
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of...
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