Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
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Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic... ...
