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Article

Desmosterolosis presenting with multiple congenital anomalies.

European journal of medical genetics - 1 Mar 2018

Rohanizadegan Mersedeh, Sacharow Stephanie

Abstract excerpt

Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We...

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Source

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Identifiers

PMID: 29175559
DOI: 10.1016/j.ejmg.2017.11.009
PMCID: PMC5963269

Genes

DHCR24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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