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Article

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

American journal of human genetics - 1 Aug 1993

Easton D F, Ponder M A, Huson S M, Ponder B A

Abstract excerpt

Neurofibromatosis (NF) type 1 (NF1) is notable for its variable expression. To determine whether variation in expression has an inherited component, we examined 175 individuals in 48 NF families, including six MZ twin pairs. Three quantitative traits were scored--number of café-au-lait patches, number of cutaneous neurofibromas, and head circumference; and five binary traits were scored--the presence or absence...

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Identifiers

PMID: 8328449
PMCID: PMC1682337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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