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Article

Ichthyosiform changes in a patient with RAC1 mutation.

Pediatric dermatology - 1 Nov 2021

Haugh Isabel Mary, Pineider Juliana L, Agim Nnenna Gebechi

Abstract excerpt

RAS-related C3 Botulinum Toxin Substrate 1 (RAC1) is a Rho GTPase that modulates numerous cellular functions including transcriptional regulation and actin-based structure turnover. Reported de novo RAC1 mutations are rare but generally manifest in developmental delay and brain malformations. In Rac1 knockout mice, a hairless phenotype has been observed, but little is known of other cutaneous phenotypes of RAC1...

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PMID: 34725860
DOI: 10.1111/pde.14844

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