Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. [electronic resource]
Producer: 20080229Description: 62-70 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Adult
- Child
- DNA Mutational Analysis
- Developmental Disabilities
- Facies
- Heart Defects, Congenital -- genetics
- Humans
- Intellectual Disability
- MAP Kinase Kinase 1 -- genetics
- MAP Kinase Kinase 2 -- genetics
- Mutation
- Phenotype
- Proto-Oncogene Proteins -- genetics
- Proto-Oncogene Proteins B-raf -- genetics
- Proto-Oncogene Proteins p21(ras)
- Skin Abnormalities -- genetics
- Syndrome
- ras Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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