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

Clin Chem Lab Med

26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.

Published: August 2024

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Source
http://dx.doi.org/10.1515/cclm-2024-0162DOI Listing

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