What is it about?

We report an unusual hypobetalipoproteinemia in a patient with a mild mental disability. The combination of NGS and specific biochemical investigations were pivotal for establishing the etiological diagnosis, a mild Smith Lemli Opitz Syndrom..

Featured Image

Read the Original

This page is a summary of: Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations, Clinical Chemistry and Laboratory Medicine (CCLM), April 2024, De Gruyter,
DOI: 10.1515/cclm-2024-0162.
You can read the full text:

Read

Contributors

Be the first to contribute to this page