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Georg F. Hoffmann
ECU
There are 1 included publications by Georg F. Hoffmann :
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
2016
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well ...