smith-lemli-opitz syndrome : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Smith-Lemli-Opitz Syndrome - 새창 An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and MENTAL RETARDATION.
Synonyms : RSH-SLO Syndrome, Smith-Lemli-Opitz Syndrome, Type I, Smith-Lemli-Opitz Syndrome, Type II, RSH SLO Syndrome, RSH Syndromes, RSH-SLO Syndromes, Smith Lemli Opitz Syndrome, Smith Lemli Opitz Syndrome, Type I, Smith Lemli Opitz Syndrome, Type II