J Clin Neurol.
2022 Mar;18(2):233-234. 10.3988/jcn.2022.18.2.233.
The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
- Affiliations
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- 1Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea
- 2Dementia and Neurodegenerative Disease Research Center, Inje University, Gimhae, Korea
- 3Department of Laboratory Medicine, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea
- 4Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea
- 53billion Inc., Seoul, Korea
- 6Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea
- 7Rare Disease Busan Regional Center, Busan, Korea
- 8Department of Neurology, Yongin Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- KMID: 2526881
- DOI: http://doi.org/10.3988/jcn.2022.18.2.233
Abstract
- No abstract available.
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