article_metadata: Jin-Long Xie Chun-Yan Jiang Ping-Ping Sun Yan Zhang Na Sun Su-Xian Luan
article_metadata: 10.1097/MD.0000000000041300
article_metadata: Medicine (Baltimore)
article_metadata: 2025 Jan 17;104(3):e41300.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39833032/
article_metadata: Developmental Disabilities / diagnosis Developmental Disabilities / genetics Microcephaly / diagnosis Microcephaly / genetics Phosphotransferases (Alcohol Group Acceptor) / genetics
article_metadata: Developmental Disabilities / diagnosis Developmental Disabilities / genetics Microcephaly / diagnosis Microcephaly / genetics Phosphotransferases (Alcohol Group Acceptor) / genetics Case Reports Review Adult DNA Repair Enzymes / genetics Female Humans Mutation Phenotype Pregnancy Prenatal Diagnosis / methods Seizures / diagnosis Seizures / etiology Seizures / genetics Ultrasonography, Prenatal PNKP protein, human Phosphotransferases (Alcohol Group Acceptor) DNA Repair Enzymes
article_metadata: PMC11749679
article_metadata: 39833032
article_metadata: Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review
article_metadata: 2025