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Article

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

American journal of medical genetics. Part A - 1 Aug 2010

Muram-Zborovski Talia M, Vaughn Cecily P, Viskochil David H, Hanson Heather, Mao Rong, Stevenson David A

Abstract excerpt

Café-au-lait macules are frequently seen in Ras-MAPK pathway disorders and are a cardinal feature of neurofibromatosis type 1 (NF1). Most NF1 individuals develop age-related tumorigenic manifestations (e.g., neurofibromas), although individuals with a specific 3-bp deletion in exon 22 of NF1 (c.2970_2972delAAT) have an attenuated phenotype with primarily pigmentary manifestations. Previous reports identify this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20602485
DOI: 10.1002/ajmg.a.33525
PMCID: PMC2910813

Genes

SPRED1

Variants

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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