Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
10.1186/s12920-022-01226-8
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Main Authors: | Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW |
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Other Authors: | PAEDIATRICS |
Format: | Article |
Published: |
Springer Science and Business Media LLC
2022
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Online Access: | https://scholarbank.nus.edu.sg/handle/10635/228683 |
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Institution: | National University of Singapore |
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