Microcephaly-seizures-development delay syndrome in a pedigree: genetic analysis and literature review
Article in Chinese Journal of Perinatal Medicine (October 2022)
The most recent citing publications are shown below. View all 20 publications that cite this research output on Dimensions.
Polymerases and DNA Repair in Neurons: Implications in Neuronal Survival and Neurodegenerative Diseases
Article in Frontiers in Cellular Neuroscience (June 2022)
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor
Article in Scientific Reports (March 2022)