Abstract
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 mutations. In this report, we describe the first known case of a RAC1 mutation with ichthyosiform changes.
Original language | English (US) |
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Pages (from-to) | 1590-1591 |
Number of pages | 2 |
Journal | Pediatric dermatology |
Volume | 38 |
Issue number | 6 |
DOIs | |
State | Published - Nov 1 2021 |
Keywords
- RAC1
- ichthyosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Dermatology