频繁的多基因低胆固醇血症和与双等位基因 DHCR7 突变相关的不寻常的 Smith Lemli Opitz 综合征之间的诊断挑战。
关键词: 7-dehydrocholesterol Smith-Lemly-Optiz syndrom hypobetalipoproteinemia next generation sequencing unusual
Mesh : Humans Smith-Lemli-Opitz Syndrome / genetics diagnosis Mutation Oxidoreductases Acting on CH-CH Group Donors / genetics Alleles Male Female
来 源: DOI:10.1515/cclm-2024-0162