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Article

Monozygotic twins discordant for neurofibromatosis 1.

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

Kaplan Lee, Foster Rosemary, Shen Yiping, Parry Dilys M, McMaster Mary L, O'Leary Melanie Collins, Gusella James F

Abstract excerpt

We present monozygotic twins discordant for the autosomal dominant disorder neurofibromatosis type 1 (NF1). The affected twin was diagnosed with NF1 at age 12, based upon accepted clinical criteria for the disorder. Both twins were re-examined at ages 35 and 57, at which times the unaffected twin continued to show no clinical manifestations of NF1. Short tandem repeat marker (STR) genotyping at 10 loci on...

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Identifiers

PMID: 20186797
DOI: 10.1002/ajmg.a.33271
PMCID: PMC2830382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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