AI Article Synopsis
- This study presents the third documented case of Fatal Autosomal Dominant Syndrome (FADS) linked to biallelic variants in the DOK7 gene.
- The findings enhance the understanding of how DOK7 is associated with this severe condition.
- Additionally, there is a noted lack of correlation between genotype and the phenotype, indicating that genetic variations may not consistently predict disease outcomes.
Article Abstract
We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.
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| http://dx.doi.org/10.1111/cge.14431 | DOI Listing |
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