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...

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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: Daum, Hagit, Meiner, Vardiella, Michaelson-Cohen, Rachel, Sukenik-Halevy, Rivka, Zalcberg, Michal Levy, Bar-Ziv, Anat, Weiden, A. Tzvi, Scher, Sholem Y., Shohat, Mordechai, Zlotogora, Joël
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2020
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Article
Accesso online: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
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