Article
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Archives of neurology - 1 Feb 2006
Lossos Alexander, Khoury Moona, Rizzo William B, Gomori John M, Banin Eyal, Zlotogorski Abraham, Jaber Saleh, Abramsky Oded, Argov Zohar, Rosenmann Hanna
Abstract excerpt
BACKGROUND: Sjögren-Larsson syndrome (SLS) is an early childhood-onset disorder with ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy caused by the deficiency of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene (the gene that encodes microsomal fatty aldehyde dehydrogenase). Cerebral proton magnetic resonance spectroscopy in those with SLS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.