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Article

A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.

Pediatric dermatology - 1 Mar 2022

Cai Zhuo Ran, McCuaig Catherine, Hatami Afshin, Rivière Jean-Baptiste, Marcoux Danielle

Abstract excerpt

RHOA-related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic RHOA variant (c.210G>T; p.Arg70Ser). This illustrates that the...

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Identifiers

PMID: 35178721
DOI: 10.1111/pde.14923
PMCID: PMC9305257

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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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