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

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

Saved in:
Bibliographic Details
Main Authors: Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
Other Authors: PAEDIATRICS
Format: Article
Published: Springer Science and Business Media LLC 2022
Subjects:
Antigens
Child, Preschool
Dwarfism
Fetal Growth Retardation
Humans
Kidney
Kidney Diseases
Male
Microcephaly
Mutation
Osteochondrodysplasias
Online Access:https://scholarbank.nus.edu.sg/handle/10635/228683
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: National University of Singapore

Internet

https://scholarbank.nus.edu.sg/handle/10635/228683

Similar Items