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
  • 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

Abstract

No abstract available.

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