Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

The Smith–Lemli–Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. SLOS is caused by mutations in the Δ7sterol-reductase gene (DHCR7), which disrupt cholesterol biosynthesis. Phenotypic variability of the disease...

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Bibliographic Details
Main Authors: Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2013
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3573202/
https://ncbi.nlm.nih.gov/pubmed/22929031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.169
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