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A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis

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참고문헌 (10)

  1. Cody JD, "Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q", Am J Med Genet, 85, pp.455~462 (1999)
  2. Feenstra I, "Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map", Am J Med Genet A, 143A, pp.1858~1867 (2007)
  3. Miller G, "Neurologic manifestations in 18q- syndrome", Am J Med Genet, 37, pp.128~132 (1990)
  4. 문진수, "2007 한국 소아 청소년 성장도표 : 개발 과정과 전망", Korean Journal of Pediatrics, 51(1), pp.1~25 (2008), 대한소아과학회
  5. parent-completed development screening tool, "KASQ : Korean Ages and Stages Questionnaires", pp.2006, Heo KH
  6. Kheradmand Kia S, "RTTN mutations link primary cilia function to organization of the human cerebral cortex", Am J Hum Genet, 91, pp.533~540 (2012)
  7. Feenstra I, "Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans", Am J Hum Genet, 89, pp.813~819 (2011)
  8. Veltman JA, "Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH", Am J Hum Genet, 72, pp.1578~1584 (2003)
  9. van Trier DC, "Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature", Eur J Med Genet, 56, pp.426~431 (2013)
  10. "DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources" (2014)[URL]

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