A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload

Three related males presented with a newly recognized x-linked syndrome associated with neurodegeneration, cutaneous abnormalities, and systemic iron overload. Linkage studies demonstrated that they shared a haplotype on Xp21.3– Xp22.2 and exome sequencing was used to identify candidate variants. Of...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Swoboda, Kathryn J., Margraf, Rebecca L., Carey, John C., Zhou, Holly, Newcomb, Tara M., Coonrod, Emily, Durtschi, Jacob, Mallempati, Kalyan, Kumanovics, Attila, Katz, Ben E., Voelkerding, Karl V., Opitz, John M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4349522/
https://ncbi.nlm.nih.gov/pubmed/24259288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36189
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