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

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

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