Article
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Clinical genetics - 1 Nov 2021
Khayat Morad, Danial-Farran Nada, Chervinsky Elena, Zehavi Yoav, Peled-Peretz Lilach, Gafni-Amsalem Chen, Hakrosh Shadia, Abu-Leil Zouabi Olfat, Tamir Liron, Mamlouk Efrat, Zlotogora Joël, Shalev Stavit A
Abstract excerpt
As a result of the preference for consanguineous/endogamous marriages, the Israeli Arab population is composed of isolated communities with relatively frequent autosomal recessive (AR) conditions in each community. Clinical diagnosis of affected individuals has uncovered the pathogenic variants throughout the years. We investigated the diversity of pathogenic AR variants in a single village in northern Israel by...
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