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
10.3346/jkms.2010.25.1.159
J Korean Med Sci
2010 Jan;25(1):159-62.
7-dehydrocholesterol reductase cholestasis mutation smith-lemli-opitz syndrome
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20052364/
Cholestasis / diagnosis Mutation, Missense Oxidoreductases Acting on CH-CH Group Donors / genetics Smith-Lemli-Opitz Syndrome / genetics
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
PMC2799999
20052364
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis
2010