Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations

Autor: Antoniadi, Marita, Lambrou, Dimitra, Mylona, Fani, Florentin, Lina, Bili, Chrysanthi, Stefanidis, Constantinos J., Kostaridou, Stavroula

Publikováno v: Journal of Pediatric Genetics; December 2024, Vol. 13 Issue: 4 p335-344, 10p

Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations.

Autor: Antoniadi M; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Lambrou D; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Mylona F; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Florentin L; AlfaLab Genetics and Genomics Center Athens, Athens, Greece., Bili C; AlfaLab Genetics and Genomics Center Athens, Athens, Greece., Stefanidis CJ; Mitera Children's Hospital, Athens, Greece., Kostaridou S; Pediatric Department, Penteli Children's Hospital, Athens, Greece.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2023 Aug 08; Vol. 13 (4), pp. 335-344. Date of Electronic Publication: 2023 Aug 08 (Print Publication: 2024).