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Article

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2012

Moles Kimberly J, Gowans Gordon C, Gedela Satyanarayana, Beversdorf David, Yu Arthur, Seaver Laurie H, Schultz Roger A, Rosenfeld Jill A, Torchia Beth S, Shaffer Lisa G

Abstract excerpt

PURPOSE: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through nonallelic homologous recombination (NAHR) between the low-copy repeats that flank this region. NF1 microdeletion syndrome is more severe than NF1 caused by...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22241097
DOI: 10.1038/gim.2011.46

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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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