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

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...

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Detalles Bibliográficos
Autores principales: Cai, Zhuo Ran, McCuaig, Catherine, Hatami, Afshin, Rivière, Jean‐Baptiste, Marcoux, Danielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305257/
https://www.ncbi.nlm.nih.gov/pubmed/35178721
http://dx.doi.org/10.1111/pde.14923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305257/
https://www.ncbi.nlm.nih.gov/pubmed/35178721
http://dx.doi.org/10.1111/pde.14923

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