Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations - Archive ouverte HAL
Article Dans Une Revue Clinical Chemistry and Laboratory Medicine Année : 2024

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

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https://hal.science/hal-04535904

Soumis le : dimanche 7 avril 2024-15:42:06

Dernière modification le : lundi 28 octobre 2024-08:25:51

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hal-04535904 , version 1 (07-04-2024)

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Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, et al.. 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, 2024, 62 (9), pp.e200-e202. ⟨10.1515/cclm-2024-0162⟩. ⟨hal-04535904⟩

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