Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature

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.PMID:37849383 | DOI:10.1111/cge.14431

Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Amit K Tiwari Varunvenkat M Srinivasan Shubha R Phadke Deepti Saxena Source Type: research