Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

بواسطة Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
منشور في 2022