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Article

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

American journal of medical genetics. Part A - 1 Sept 2014

Castiglioni Claudia, Bertini Enrico, Orellana Paulina, Villarroel Cynthia, Las Heras Facundo, Hinzpeter Daniel, Paolinelli Paola, Bevilacqua Jorge A, Alvarez Karin

Abstract excerpt

Congenital unilateral overgrowth of the upper extremity affecting only the muscle tissue is rare. We describe on the clinical, histopathological, and neuroimaging findings in a 6-year-old girl with a congenital, non-progressive muscle enlargement of the entire left upper limb with an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for the AKT1, PIK3CA, and...

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Topics

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Share to Class I Phosphatidylinositol 3-Kinases
Share to Hand Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertrophy

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to Phosphatidylinositol 3-Kinases

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Source

Identifiers

PMID: 24975390
DOI: 10.1002/ajmg.a.36651

Genes

AKT1
PTEN

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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