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Article

Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.

European journal of medical genetics - 1 Apr 2020

Sakaguchi Yuri, Uehara Tomoko, Sasaki Marie, Fujimura Kimino, Kishi Kazuo, Kosaki Kenjiro, Takenouchi Toshiki

Abstract excerpt

Neurocutaneous disorders are caused by germline and/or somatic mutations and involve the integument and central nervous systems. Congenital melanocytic nevus syndrome is characterized by melanotic skin lesions caused by somatic mutations at codon 61 in NRAS. A large cutaneous lesion raises the risk of central nervous system involvement. We report an 8-year-old girl with a congenital giant pigmented nevus that...

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Identifiers

PMID: 31698101
DOI: 10.1016/j.ejmg.2019.103803

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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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