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Article

A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.

Journal of pediatric hematology/oncology - 1 Oct 2024

Hall Erin, Perez Francisco A, Cole Bonnie, Paulson Vera, Leary Sarah, Ronsley Rebecca

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition with well-described skin, ocular, and central nervous system findings. Several case reports have been documented demonstrating the presence of low-grade gliomas in patients with ECCL and the association with certain FGFR1 mutations. We report on a case of diffuse low-grade glioma, mitogen activated protein kinase pathway altered in a patient...

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Source

Identifiers

PMID: 39196641
DOI: 10.1097/MPH.0000000000002947

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.PMID 39196641Read ↗

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