A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
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DOI: 10.1111/pde.14923
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… read more here.
Keywords: rhoa variant; cutaneous hypopigmentation; rhoa; patient patterned ... See more keywords