Journal of Paediatric Genetics (JPG) aims to be an English multidisciplinary peer-reviewed international and Open Access journal publishing articles on all aspects of genetics in childhood and genetics of experimental models. JPG, the official publication of the World Paediatric Association, embodies the overarching goals of the association by using the latest research developments for clinical genetics, molecular genetics, biochemical genetics, formal genetics, neuropsychiatric genetics, behavioural genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes and molecular embryology of birth defects.
Current Issue: Volume 15, Issue 1 (2026)
Original Research Articles
Succinyl-CoA:3-ketoacid CoA Transferase (SCOT) Deficiency: Case Series of Eight Patients with Novel OXCT1 Mutations from a Consanguineous Population in India
Radharamadevi Akella
Alopecia in Hereditary Epidermolysis Bullosa: A Series of 52 Cases
Kmar Turki, Khadija Sellami, Rim Chaabouni, Fatma Hammami, Emna Mnif, Emna Bahloul, and Hamida Turki
Case Studies
Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’Ivoire
Kouakou Kouame Cyprien, Doumbia Mariam, Dainguy Marie Evelyne, Folquet Amorissani, and Augustine Djivohessoun