Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Mathilde Bonnot RugetPhilippe MoulinCécile PaganDavid CheillanOriane MarmontelGerald RaverotPascale BenlianMathilde Di FilippoPublished in: Clinical chemistry and laboratory medicine (2024)
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