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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Veröffentlicht in:	European journal of human genetics : EJHG 2020-07, Vol.28 (7), p.938-942
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	7-Dehydrocholesterol reductase Children Fetuses Literature reviews Miscarriage Opitz syndrome Phenotypes
Online-Zugang:	Volltext
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