Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.
Dineshani HettiarachchiS M V SubasingheG G AnandagodaHetalkumar PanchalPoh-San LaiVajira H W DissanayakePublished in: BMC medical genomics (2022)
We report a novel frameshift variant in the PCNT gene and a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.