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- Title
A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
- Authors
Cai, Zhuo Ran; McCuaig, Catherine; Hatami, Afshin; Rivière, Jean‐Baptiste; Marcoux, Danielle
- Abstract
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 complexity of the orchestration of morphogenesis and organogenesis can be affected by different variants in the same gene.
- Subjects
HYPOPIGMENTATION; GENETIC variation; BALDNESS; LEUKOENCEPHALOPATHIES; MORPHOGENESIS
- Publication
Pediatric Dermatology, 2022, Vol 39, Issue 2, p281
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.14923