A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis

Journal of Korean Medical Science

Volumn 25, Issue 1, 2010, Pages 159-162

  Ko, Jae Sung ^a   Choi, Byung Sam ^a   Seo, Jeong Kee ^a   Shin, Jee Yeon ^a   Chae, Jong Hee ^a   Kang, Gyeong Hoon ^a   Lee, Ran ^b   Ki, Chang Seok ^c   Kim, Jong Won ^c  

^a Seoul National University College of Medicine   (South Korea)

^b Konkuk University School of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

7 Dehydrocholesterol reductase; Cholestasis; Mutation; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; 7-DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHOLESTASIS; ECHOGRAPHY; ELECTROENCEPHALOGRAPHY; GENETICS; HUMAN; LIVER; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PATHOLOGY; PHENOTYPE; SMITH LEMLI OPITZ SYNDROME;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHOLESTASIS; DUCTUS ARTERIOSUS, PATENT; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT, NEWBORN; LIVER; MALE; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 77949330472     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.1.159     Document Type: Article

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