Associated Papers
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
Steiner CE et al.
Genes, 2025
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Castro JTS et al.
Arquivos De Neuro-psiquiatria, 2023
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2019
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Paiva ARB et al.
Arquivos De Neuro-psiquiatria, 2018
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Molecular Genetics and Metabolism, 2007
Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.
Auada MP et al.
The British Journal of Dermatology, 2006
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB et al.
Human Mutation, 2005
Neuro-ichthyotic Syndromes: A Case Series.
Incecık F et al.
Journal of Pediatric Neurosciences, 0
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