Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

by Hettiarachchi, D., Panchal, H., Lai, P.S., Dissanayake, V.H.W.
Published 2021

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

by Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
Published 2022