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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

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참고문헌 (10)

  1. Issekutz KA, "An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study", Am J Med Genet A, 133A, pp.309~317 (2005)
  2. Hale CL, "Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria", Am J Med Genet Part A, 170A, pp.344~354 (2016)
  3. Vissers LE, "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome", Nat Genet, 36, pp.955~957 (2004)
  4. Legendre M, "Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome", Am J Med Genet, 175, pp.417~430 (2017)
  5. Pramudita J, "CHARGE syndrome : an Indonesian case report", J Biomed Transl Res, 1, pp.23~25 (2017)
  6. Tischfield MA, "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development", Nature Genet, 37, pp.1035~1037 (2005)
  7. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  8. "CHARGE syndrome" (2012)[URL]
  9. Frank M, "Genome sequencing: a systematic review of health economic evidence", Health Econ Rev, 3, pp.29~ (2013)
  10. Grozeva D, "Targeted next-generation sequencing analysis of 1, 000 individuals with intellectual disability", Hum Mutat, 36, pp.1197~1204 (2015)

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