Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Takenouchi, Toshiki

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. [electronic resource] - The Journal of pediatrics Feb 2015 - 483-6 p. digital

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

1097-6833

10.1016/j.jpeds.2014.10.015 doi


Child
Child, Preschool
Female
Growth Disorders--genetics
Humans
Mutation
Pedigree
Phenotype
Receptor, Platelet-Derived Growth Factor beta--genetics
Syndrome