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Article

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

European journal of human genetics : EJHG - 1 Sept 2011

Zolotushko Jenny, Flusser Hagit, Markus Barak, Shelef Ilan, Langer Yshaia, Heverin Maura, Björkhem Ingemar, Sivan Sara, Birk Ohad S

Abstract excerpt

Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very different phenotypes, the clinical entity arising from mutations in 24-dehydrocholesterol reductase (DHCR24) has yet to be defined. We now describe consanguineous Bedouin kindred with four surviving...

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Source

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Identifiers

PMID: 21559050
DOI: 10.1038/ejhg.2011.74
PMCID: PMC3179370

Genes

DHCR24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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