Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.

doi:10.1002/ajmg.a.38105

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Article

Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.

American journal of medical genetics. Part A - 1 Apr 2017

Yeung Kit San, Ip Janice Jing Kun, Chow Chin Pang, Kuong Evelyn Yue Ling, Tam Paul Kwong-Hang, Chan Godfrey Chi-Fung, Chung Brian Hon-Yin

Abstract excerpt

Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation...

Topics

Adolescent
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases
Female
Gene Expression
Genetic Association Studies
Genetic Testing
Humans
Klippel-Trenaunay-Weber Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Nevus

Phenotype

Polymerase Chain Reaction

Scoliosis

Vascular Malformations

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Open in PubMed

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PMID: 28328134
DOI: 10.1002/ajmg.a.38105

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