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J Clin Invest. 2006 Sep;116(9):2322-5.

Cholesterol precursors and facial clefting.

Author information

1
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA. fdporter@mail.nih.gov

Abstract

Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor levels are present during embryogenesis. It has been debated whether the malformations result from low cholesterol or the buildup of sterol precursors. In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356).

PMID:
16955133
PMCID:
PMC1555658
DOI:
10.1172/JCI29872
[Indexed for MEDLINE]
Free PMC Article

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