Uncovers novel CHST6 variants in Egyptian families, highlighting consanguinity's impact on rare diseases.
This study broadens the genetic landscape of MCD by identifying novel CHST6 variants in an Egyptian cohort. The high rate of homozygosity highlights the significant role of consanguinity in shaping the genetic burden of rare diseases in Egypt and the wider Middle East and North Africa region.
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Am et al. (2026) studied this question.
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