7-dehydrocholesterol reductase (DHCR7) 변이로 진단된 Smith-Lemli-Opitz 증후군 1예 (A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene)
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- Clinical and Experimental Pediatrics
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- 제51권11호
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- pp.1236-1240
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- 2008