Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. [electronic resource]
Producer: 20150824Description: 688-703 p. digitalISSN:- 1554-6578
- Aminoacyltransferases -- genetics
- Brain -- pathology
- Cardiomyopathies -- complications
- Electron Transport Complex IV -- metabolism
- Female
- Fetus
- Humans
- Hydrops Fetalis -- genetics
- Infant, Newborn
- Magnetic Resonance Imaging
- Mitochondrial Diseases -- complications
- Molecular Biology
- Muscles -- pathology
- Mutation -- genetics
- Olivopontocerebellar Atrophies -- complications
- Postmortem Changes
- Pregnancy
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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