Mancini, G M S

Studies on the pathogenesis of Costello syndrome. [electronic resource] - Journal of medical genetics Apr 2003 - e37 p. digital

Publication Type: Case Reports; Letter

1468-6244

10.1136/jmg.40.4.e37 doi


Abnormalities, Multiple--etiology
Child, Preschool
DNA--chemistry
DNA Mutational Analysis
Face--abnormalities
Female
Growth Disorders--pathology
Humans
Infant
Intellectual Disability--pathology
Male
Polymorphism, Genetic
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor--genetics
Skin Abnormalities--pathology
Syndrome