Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations

Clin Chem Lab Med. 2024 Apr 8;62(9):e200-e202. doi: 10.1515/cclm-2024-0162. Print 2024 Aug 27.
No abstract available

Keywords: 7-dehydrocholesterol; Smith-Lemly-Optiz syndrom; hypobetalipoproteinemia; next generation sequencing; unusual.

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Alleles
  • Female
  • Humans
  • Male
  • Mutation*
  • Oxidoreductases Acting on CH-CH Group Donors* / genetics
  • Smith-Lemli-Opitz Syndrome* / diagnosis
  • Smith-Lemli-Opitz Syndrome* / genetics

Substances

  • 7-dehydrocholesterol reductase
  • Oxidoreductases Acting on CH-CH Group Donors