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

Por 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.
Publicado no Am J Med Genet A (2013)