Article
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
American journal of medical genetics. Part A - 1 Mar 2009
Sol-Church Katia, Stabley Deborah L, Demmer Laurie A, Agbulos Abigail, Lin Angela E, Smoot Leslie, Nicholson Linda, Gripp Karen W
Abstract excerpt
Costello syndrome is a rare congenital anomaly syndrome associated with mental retardation and predisposition to benign and malignant tumors, caused by heterozygous missense mutations in the HRAS oncogene. Previously, all molecularly analyzed mutations appeared de novo, and most arose in the paternal germline. A single patient with somatic mosaicism for a Costello syndrome causing HRAS mutation has been reported....
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