Phenotypic Variability Among Adult Siblings With Sjögren-Larsson Syndrome

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 mi...

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Bibliographische Detailangaben
Hauptverfasser: Lossos, Alexander, Khoury, Moona, Rizzo, William B., Gomori, John M., Banin, Eyal, Zlotogorski, Abraham, Jaber, Saleh, Abramsky, Oded, Argov, Zohar, Rosenmann, Hanna
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2006
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3086176/
https://ncbi.nlm.nih.gov/pubmed/16476818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneur.63.2.278
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