Sjorgren Larsson Syndrome
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1. Estudo clinico-molecular e analise da textura epidermica de pacientes com sindrome de Sjogren-Larsson / Molecular genetic study and texture analysis of the epidermis in patients with Sjogren-Larsson Syndrome
Background: Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spasticity. Various mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH) are responsible for the disease but the genotype-phenotype relationships are undefined. Objectives: The purpose of this study
Publicado em: 2006