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Article

Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome.

American journal of medical genetics. Part A - 1 Dec 2021

Kapoor Saloni, Scanga Hannah L, Reyes-Múgica Miguel, Nischal Ken K

Abstract excerpt

Linear Sebaceous Nevus Syndrome is a rare disorder that presents with nevus sebaceus in association with corneal dermoids, colobomas, choroidal osteomas, and arachnoid cysts. It is thought to represent a mosaic RASopathy. These are disorders characterized by postzygotic somatic mutation in genes involved in RAS/MAPK signaling pathway. In this report we describe two patients with linear sebaceous nevus syndrome...

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Identifiers

PMID: 34254724
DOI: 10.1002/ajmg.a.62422

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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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