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

• المؤلفون الرئيسيون: Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
• مؤلفون آخرون: PAEDIATRICS
• التنسيق: مقال
• منشور في: Springer Science and Business Media LLC 2022
• الموضوعات: Antigens; Child, Preschool; Dwarfism; Fetal Growth Retardation; Humans; Kidney; Kidney Diseases; Male; Microcephaly; Mutation; Osteochondrodysplasias
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/228683

10.1186/s12920-022-01226-8