article_metadata: 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
article_metadata: 10.3346/jkms.2010.25.1.159
article_metadata: J Korean Med Sci
article_metadata: 2010 Jan;25(1):159-62.
article_metadata: 7-dehydrocholesterol reductase cholestasis mutation smith-lemli-opitz syndrome
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/20052364/
article_metadata: Cholestasis / diagnosis Mutation, Missense Oxidoreductases Acting on CH-CH Group Donors / genetics Smith-Lemli-Opitz Syndrome / genetics
article_metadata: Cholestasis / diagnosis Mutation, Missense Oxidoreductases Acting on CH-CH Group Donors / genetics Smith-Lemli-Opitz Syndrome / genetics Case Reports Amino Acid Substitution Base Sequence Ductus Arteriosus, Patent / diagnosis Electroencephalography Humans Infant, Newborn Liver / diagnostic imaging Liver / pathology Male Phenotype Smith-Lemli-Opitz Syndrome / diagnosis Ultrasonography Oxidoreductases Acting on CH-CH Group Donors 7-dehydrocholesterol reductase
article_metadata: PMC2799999
article_metadata: 20052364
article_metadata: A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis
article_metadata: 2010