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Article

Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?

Genetics and molecular research : GMR - 15 Aug 2014

Linhares N D, Freire M C M, Cardenas R G C C L, Bahia M, Puzenat E, Aubin F, Pena S D J

Abstract excerpt

Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myofibromatosis and...

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Source

Identifiers

PMID: 25158255
DOI: 10.4238/2014.August.15.11

Genes

PDGFRB
PTPRG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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