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Article

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.

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

Bottillo Irene, Torrente Isabella, Lanari Valentina, Pinna Valentina, Giustini Sandra, Divona Luigina, De Luca Alessandro, Dallapiccola Bruno

Abstract excerpt

We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20503322
DOI: 10.1002/ajmg.a.33386

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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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