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HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Human molecular genetics - 15 May 2007

Wassif Christopher A, Brownson Kirstyn E, Sterner Allison L, Forlino Antonella, Zerfas Patricia M, Wilson William K, Starost Matthew F, Porter Forbes D

Abstract excerpt

Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyosis in mice. LBR is a bifunctional protein with both a lamin B binding and a sterol Delta(14)-reductase domain. It previously has been proposed that LBR is the primary sterol Delta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis. However, DHCR14 also encodes a sterol...

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Source

Identifiers

PMID: 17403717
DOI: 10.1093/hmg/ddm065

Genes

LBR

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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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HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.PMID 17403717Read ↗

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