Research & Innovation
Publications
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
PMU Authors
Johannes A. Mayr, Johannes Koch, Franz Zimmermann, Christian Rauscher, Wolfgang Sperl
All Authors
Johannes A. Mayr, Johannes Koch, Christine Fauth, Franz Zimmermann, Christian Rauscher, Johannes Zschocke, Wolfgang Sperl
Journal association
NEUROPEDIATRICS
Abstract
Keywords
MUTATIONS, SPECTRUM, DISORDER, DEHYDROGENASE COMPLEX DEFICIENCY, SOMATIC MOSAICISM