본문 바로가기
KERD
논문KCI 등재

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)

1

조회

0

다운로드

0

인용

0

참고문헌

주제분류병리학

참고문헌 (10)

  1. Chang TC, "Axenfeld-Rieger syndrome: new perspectives", Br J Ophthalmol, 96, pp.318~322 (2012)[DOI]
  2. Tumer Z, "Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations", Eur J Hum Genet, 17, pp.1527~1539 (2009)[DOI]
  3. Hjalt TA, "Current molecular understanding of Axenfeld-Rieger syndrome", Expert Rev Mol Med, 7, pp.1~17 (2005)
  4. Semina EV, "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome", Nat Genet, 14, pp.392~399 (1996)[DOI]
  5. Reis LM, "PITX2 and FOXC1 spectrum of mutations in ocular syndromes", Eur J Hum Genet, 20, pp.1224~1233 (2012)[DOI]
  6. Kim GN, "A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome", Mol Vis, 19, pp.935~943 (2013)
  7. 양희정, "A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings", Korean Journal of Ophthalmology, 29(4), pp.249~255 (2015), 대한안과학회
  8. 윤재원, "Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome", Annals of Laboratory Medicine, 33(5), pp.360~363 (2013), 대한진단검사의학회
  9. 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)[DOI]
  10. Allingham RR, "Shields textbook of glaucoma. 6th ed", pp.2011, Wolters Kluwer Health

관련 논문AI추천

이 간행물의 다른 논문 (16건)