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Article

SPRED 1 mutations in a neurofibromatosis clinic.

Journal of child neurology - 1 Oct 2010

Muram-Zborovski Talia M, Stevenson David A, Viskochil David H, Dries David C, Wilson Andrew R, Rong Mao

Abstract excerpt

Legius syndrome, caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) without tumorigenic manifestations. Patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for NF1 were enrolled at the University of Utah NF Clinic, and SPRED1 mutatio...

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Source

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Identifiers

PMID: 20179001
DOI: 10.1177/0883073809359540
PMCID: PMC3243064

Genes

SPRED1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20179001-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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