Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil, Kim M

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [electronic resource] - American journal of medical genetics. Part A Jul 2014 - 1713-33 p. digital

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

1552-4833

10.1002/ajmg.a.36552 doi


Adipose Tissue--pathology
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases
Female
Genetic Association Studies
Genotype
Humans
Hyperplasia--diagnosis
Infant
Infant, Newborn
Lipoma--diagnosis
Male
Middle Aged
Musculoskeletal Abnormalities--diagnosis
Mutation
Nevus--diagnosis
Organ Specificity--genetics
Phenotype
Phosphatidylinositol 3-Kinases--genetics
Vascular Malformations--diagnosis
Young Adult