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The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

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참고문헌 (6)

  1. Zheng R, "A novel PNPLA6compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome", Mol Med Rep, 18, pp.261~267 (2018)
  2. Tarnutzer AA, "Boucher-Neuhäuser syndrome : cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism : two novel cases and a review of 40 cases from the literature", J Neurol, 262, pp.194~202 (2015)
  3. Synofzik M, "PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum", Brain, 137, pp.69~77 (2014)
  4. Hufnagel RB, "Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes", J Med Genet, 52, pp.85~94 (2015)
  5. Seo GH, "Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE", Clin Genet, 98, pp.562~570 (2020)
  6. Kmoch S, "Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness", Nat Commun, 6, pp.5614~ (2015)

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