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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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| Publicado no: | Am J Perinatol |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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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