Paracelsus Medizinische Privatuniversität (PMU)

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.

#2012
#NEUROPEDIATRICS

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