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Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
The founder variant DHCR7:c.964-1G>C causing autosomal recessive Smith–Lemli–Opitz (SLOS) was introduced into the Israeli preconception carrier program for Ashkenazi Jews in 2017 because of the high carrier frequency in this population (2.3%). Other disease-causing variants in DHCR7 are relativel...
Shranjeno v:
| izdano v: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer International Publishing
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7316738/ https://ncbi.nlm.nih.gov/pubmed/32055014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0577-0 |
| Oznake: |
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