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Article

Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with a SPRED1 mutation and orbital manifestations.

Ophthalmic plastic and reconstructive surgery - 1 Jan 2000

Lane Katherine A, Anninger William V, Katowitz James A

Abstract excerpt

A 4-year-old child with no medical history presented for evaluation of a small, palpable nodule near the left inferolateral rim. The lesion had a bluish hue and had been slowly enlarging over the course of several months. MRI of the orbits revealed a heterogenous and infiltrative preseptal and ex...

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Share to Adaptor Proteins, Signal Transducing
Share to Child, Preschool
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Intracellular Signaling Peptides and Proteins

Share to Magnetic Resonance Imaging

Share to Membrane Proteins

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Source

Identifiers

PMID: 19966658
DOI: 10.1097/IOP.0b013e3181b59eea

Genes

SPRED1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19966658-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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