A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Autor: Marcilla Vázquez, Carlos, Carrascosa Romero, María del Carmen, Martínez Gutiérrez, Andrés, Baquero Cano, María, Alfaro Ponce, Blanca, Dabad Moreno, María Jesús
Zdroj: Journal of Pediatric Genetics; June 2021, Vol. 10 Issue: 2 p164-172, 9p
Databáze: Supplemental Index