The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation - Lee, H.J., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Lee, J.H., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Lee, J.S., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Choe, Y.H., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea (Genes & genomics, 2010)
Keywords: Animal Genetics and Genomics; behavior disorders; Biomedical and Life Sciences; biosynthesis; central nervous system; children; CHOLESTEROL; Cholesterol therapy; COLESTEROL; DHCR7; eggs; genomics; girls; Human Genetics; Life Sciences; Microbial Genetics and Genomics; mutation; Mutation analysis; palate; patients; Plant Genetics and Genomics; Short Communication; sleep; Smith-Lemli-Opitz syndrome; 생물학; Cholesterol therapy; Smith-Lemli-Opitz syndrome; Mutation analysis