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A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.

Molecular genetics & genomic medicine - 1 May 2021

Zhang Tingting, Jia Caiwei, Dong Zhiya, Li Chuanyin, Lu Wenli

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by NF1 gene mutation. Its clinical manifestations include multiple cafe´-au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning disabilities, and an increased risk of malignancy. METHODS AND RESULTS: Here, we reported a Chinese patient bearing with a novel NF1 mutation...

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Identifiers

PMID: 33764694
DOI: 10.1002/mgg3.1643
PMCID: PMC8172195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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