Smith-Lemli-Opitz Mutations in Unexplained Stillbirths

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrosterol reductase (DHCR7). 3% of Caucasians carry DHCR7 mutations, theoretically resulting in a homozygote frequency of 1/4000. However, SLOS occur...

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Bibliografske podrobnosti
izdano v:Am J Perinatol
Main Authors: Gibbins, Karen J., Reddy, Uma M., Saade, George R., Goldenberg, Robert L., Dudley, Donald J., Parker, Corette B., Thorsten, Vanessa, Pinar, Halit, Bukowski, Radek, Hogue, Carol J., Silver, Robert M.
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060008/
https://ncbi.nlm.nih.gov/pubmed/29433144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1626705
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