논문KCI 등재
An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2016.03|Annals of Laboratory Medicine|제36권 제2호|pp. 194-196
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참고문헌 (7)
- Brunetti-Pierri N, "Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment", Eur J Hum Genet, 19, pp.102~107 (2011)
- Monfort S, "Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci", Am J Med Genet A, 143, pp.382~384 (2007)
- Yeung A, "4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment", Eur J Med Genet, 52, pp.440~442 (2009)
- Granados-Riveron JT, "Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects", Hum Mol Genet, 19, pp.4007~4016 (2010)
- Bruneau BG, "The developmental genetics of congenital heart disease", Nature, 451, pp.943~948 (2008)
- Hagen A, "Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings", Am J Med Genet A, 155A, pp.3075~3081 (2011)
- Dundar M, "Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome", Am J Med Genet A, 152A, pp.2791~2795 (2010)
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