Associated Papers
PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.
Acikgoz NB et al.
Molecular Syndromology, 2025
Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
Vida-Navas E et al.
Genes, 2024
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
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Zollino M et al.
Molecular Genetics & Genomic Medicine, 2019
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Orloff MS et al.
American Journal of Human Genetics, 2013
FGFR3 mutational status and protein expression in patients with bladder cancer in a Jordanian population.
Bodoor K et al.
Cancer Epidemiology, 2010
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