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Article

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

The Keio journal of medicine - 1 Jan 2013

Brems Hilde, Legius Eric

Abstract excerpt

Multiple café-au-lait macules (CALMs) are the hallmark of Von Recklinghausen disease, or neurofibromatosis type 1 (NF1). In 2007 we reported that some individuals with multiple CALMs have a heterozygous mutation in the SPRED1 gene and have NF1-like syndrome, or Legius syndrome. Individuals with Legius syndrome have multiple CALMs with or without freckling, but they do not show the typical NF1-associated tumors...

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Identifiers

PMID: 24334617
DOI: 10.2302/kjm.2013-0002-re

Genes

SPRED1

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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