Cargando…

Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehy...

Descripción completa

Detalles Bibliográficos
Autores principales: Subramanian, Velusamy, Hariharan, Praveen, Balaji, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862294/
https://www.ncbi.nlm.nih.gov/pubmed/27195039
http://dx.doi.org/10.4103/1817-1745.181267