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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Detalhes bibliográficos
Main Authors: Lossos, Alexander, Khoury, Moona, Rizzo, William B., Gomori, John M., Banin, Eyal, Zlotogorski, Abraham, Jaber, Saleh, Abramsky, Oded, Argov, Zohar, Rosenmann, Hanna
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
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Article
Acesso em linha: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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