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KMID : 1161920150120020069
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Journal of Medicine and Life Science
2015 Volume.12 No. 2 p.69 ~ p.71
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15-year old man patient with renal coloboma syndrome caused by PAX2mutation
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Lee Yeo-Jin
Lee Hye-Jin
Cheong Hae-Il
Han Kyoung-Hee
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Abstract
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Renal coloboma syndrome (RCS) is characterized by renal hypoplasia and optic disc coloboma. RCS is an autosomal dominant inherited disorder caused by PAX2 gene mutations. We report a case of RCS caused by PAX2 gene mutation in a 15-year-old man.
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KEYWORD
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Coloboma, Renal Coloboma Syndrome, Renal Hypoplasia, Renal Insufficiency, Chronic, PAX2 Transcription Factor
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