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Article

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

European journal of medical genetics - 1 Apr 2016

Tripolszki Kornélia, Knox Rachel, Parker Victoria, Semple Robert, Farkas Katalin, Sulák Adrien, Horváth Emese, Széll Márta, Nagy Nikoletta

Abstract excerpt

Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots...

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PMID: 26851524
DOI: 10.1016/j.ejmg.2016.02.002

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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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