This page shows the publications Kathryn Swoboda has written about Fatal Outcome.
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan; 164A(1):17-28.
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord. 2008 Aug; 18(8):675-7.
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45.
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