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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 - 27 Aug 2024

Bonnot Ruget Mathilde, Moulin Philippe, Pagan Cécile, Cheillan David, Marmontel Oriane, Raverot Gerald, Benlian Pascale, Di Filippo Mathilde

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Identifiers

PMID: 38581293
DOI: 10.1515/cclm-2024-0162

Genes

DHCR7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.PMID 38581293Read ↗

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[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

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Smith-Lemli-Opitz syndrome and the DHCR7 gene.Semantic proximity Read ↗

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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?Semantic proximity Read ↗

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