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The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator (CNNM4): A Case Report

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참고문헌 (8)

  1. Daneshmandpour Y, "Features, genetics and their correlation in Jalili syndrome: a systematic review", J Med Genet, 56, pp.358~369 (2019)
  2. Jalili IK, "Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs", Eye(Lond), 24, pp.1659~1668 (2010)
  3. Parry DA, "Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta", Am J Hum Genet, 84, pp.266~273 (2009)
  4. Steinhaus R, "Mutation-Taster2021", Nucleic Acids Res, 49(W1), pp.W446~451 (2021)
  5. Adzhubei IA, "A method and server for predicting damaging missense mutations", Nat Methods, 7, pp.248~249 (2010)
  6. Sim NL, "SIFT web server : predicting effects of amino acid substitutions on proteins", Nucleic Acids Res, 40(Web Server issue), pp.W452~7 (2012)
  7. Shihab HA, "An integrative approach to predicting the functional effects of non-coding and coding sequence variation", Bioinformatics, 31, pp.1536~1543 (2015)
  8. Topcu V, "A new familial case of Jalili syndrome caused by a novel mutation in CNNM4", Ophthalmic Genet, 38, pp.161~166 (2017)

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