Associated Papers
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Yeung KS et al.
American Journal of Medical Genetics. Part A, 2017
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Luks VL et al.
The Journal of Pediatrics, 2015
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