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

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作者：
D. Hettiarachchi
S. M. V. Subasinghe
G. G. Anandagoda
Hetalkumar Panchal
P. S. Lai
V. H. W. Dissanayake
机构：
[1] University of Colombo,Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine
[2] Lady Ridgeway Hospital for Children,Post Graduate Department of Bioscience
[3] Sardar Patel University,Department of Paediatrics, Yong Loo Lin School of Medicine
[4] National University of Singapore,undefined
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BMC Medical Genomics | / 15卷
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