Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz, A L

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. [electronic resource] - Clinical genetics Jan 2008 - 62-70 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/j.1399-0004.2007.00931.x doi


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