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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Detaylı Bibliyografya
Yayımlandı:Am J Perinatol
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
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Article
Online Erişim: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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