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MeSH:(Smith-Lemli-Opitz Syndrome/diagnosis/*genetics)

1.A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis.

Jae Sung KO ; Byung Sam CHOI ; Jeong Kee SEO ; Jee Yeon SHIN ; Jong Hee CHAE ; Gyeong Hoon KANG ; Ran LEE ; Chang Seok KI ; Jong Won KIM

Journal of Korean Medical Science 2010;25(1):159-162

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