Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA

J Pediatr. 2015 Nov;167(5):957-62. doi: 10.1016/j.jpeds.2015.07.049. Epub 2015 Sep 1.

Authors

Hoon-Chul Kang¹, Seung Tae Baek², Saera Song², Joseph G Gleeson³

Affiliations

¹ Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY; Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University, College of Medicine, Seoul, Republic of Korea.
² Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY.
³ Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY. Electronic address: jogleeson@rockefeller.edu.

PMID: 26340871
DOI: 10.1016/j.jpeds.2015.07.049

No abstract available

MeSH terms

Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases
DNA Mutational Analysis
Diagnosis, Differential
Genetic Counseling
Growth Disorders / diagnosis*
Growth Disorders / genetics*
Humans
Infant
Infant, Newborn
Lipoma / diagnosis
Lipoma / genetics
Musculoskeletal Abnormalities / diagnosis
Musculoskeletal Abnormalities / genetics
Mutation*
Nevus / diagnosis
Nevus / genetics
Phosphatidylinositol 3-Kinases / genetics*
Polymerase Chain Reaction
Syndrome
Vascular Malformations / diagnosis
Vascular Malformations / genetics

Substances

Phosphatidylinositol 3-Kinases
Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human

Supplementary concepts

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi