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

Publikováno v: Journal of Pediatric Genetics; June 2021, Vol. 10 Issue: 2 p164-172, 9p

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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 C; Department of Pediatrics, Albacete University Hospital Complex, Spain., Carrascosa Romero MDC; Department of Pediatrics, Albacete University Hospital Complex, Spain., Martínez Gutiérrez A; Department of Pediatrics, Albacete University Hospital Complex, Spain., Baquero Cano M; Department of Pediatrics, Albacete University Hospital Complex, Spain., Alfaro Ponce B; Department of Pediatrics, Albacete University Hospital Complex, Spain., Dabad Moreno MJ; Department of Pediatrics, Albacete University Hospital Complex, Spain.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2021 Jun; Vol. 10 (2), pp. 164-172. Date of Electronic Publication: 2020 May 12.