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Article

An investigation of PIK3CA mutations in isolated macrodactyly.

The Journal of hand surgery, European volume - 1 Sept 2018

Wu Jingheng, Tian Wei, Tian Guanglei, Sumner Kelli, Hutchinson Douglas T, Ji Yuan

Abstract excerpt

Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten...

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PMID: 29661094
DOI: 10.1177/1753193418770366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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