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Article

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

Human mutation - 1 Jun 2011

Vogt Julia, Kohlhase Jürgen, Morlot Susanne, Kluwe Lan, Mautner Victor-Felix, Cooper David N, Kehrer-Sawatzki Hildegard

Abstract excerpt

The analysis of monozygotic twins (MZ) concordant for neurofibromatosis type 1 (NF1) has indicated that genetic factors exert a major influence on the clinical variability (e.g. the number of café-au-lait spots and/or neurofibromas) evident in this disease. Here, we report on a pair of monozygotic, dichorionic twins who are phenotypically discordant with respect to NF1. Whereas DNA sequence analysis indicated...

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PMID: 21618341
DOI: 10.1002/humu.21476

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

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