논문KCI 등재
First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2015.03|Annals of Laboratory Medicine|제35권 제2호|pp. 275-278
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참고문헌 (10)
- Balasubramanian M, "Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype", J Med Genet, 48, pp.290~298 (2011)
- Rosenfeld JA, "Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome", PLoS One, 4, pp.e6568~ (2009)
- Döcker D, "Further delineation of the SATB2 phenotype", Eur J Hum Genet, 22, pp.1034~1039 (2014)
- Zhao X, "The role of SATB2 in skeletogenesis and human disease", Cytokine Growth Factor Rev, 25, pp.35~44 (2014)
- FitzPatrick DR, "Identification of SATB2 as the cleft palate gene on 2q32-q33", Hum Mol Genet, 12, pp.2491~2501 (2003)
- Nicholl J, "Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH", Pathology, 46, pp.41~45 (2014)
- Miller DT, "Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)
- Urquhart J, "4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate", Eur J Med Genet, 52, pp.454~457 (2009)
- de Ravel TJ, "Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome", Eur J Med Genet, 52, pp.120~122 (2009)
- van der Zanden LF, "Aetiology of hypospadias: a systematic review of genes and environment", Hum Reprod Update, 18, pp.260~283 (2012)
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