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
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