Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA.
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.
Hoon-Chul
HC
Kang
Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY.
Seung Tae
ST
Baek
Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY.
Saera
S
Song
Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY. Electronic address: jogleeson@rockefeller.edu.
Joseph G
JG
Gleeson
D002648:Child; D002675:Child, Preschool; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008067:Lipoma / Q000175:diagnosis / Q000235:genetics; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009506:Nevus / Q000175:diagnosis / Q000235:genetics; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013577:Syndrome; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics
D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human