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 14, Issue 4 (2025)
Original Research Articles
Lesch-Nyhan Disease a Treatable Mimicker of Dyskinetic Cerebral Palsy in Boys: Insights from an Indian Series of Six Cases with Report of Four Novel Variants
Vykuntaraju K. Gowda, Spoorthy Nelaji Karunakar, Varunvenkat M. Srinivasan, and Viveka-Santhosh Reddy
Tethered Spinal Cord and Urinary Tract Complications in Trisomy 18
Michael A. Phillipi, Ladawna Gievers, Jesse L. Winer, Casey Seideman, and Amanda J.H. Kim
Fanconi-Bickel Syndrome with Variable Phenotypes: A Case Series Highlighting a Successful Pregnancy Outcome from a Tertiary Care Center in North India
Pragya Kafley, Varunvenkat M. Srinivasan, Chaitra Ravi, Sangeeta Das, Pooja Motwani, and Kausik Mandal
A Study of Diagnostic Experience and Impacts of Rare Disease Diagnosis In Children and Their Families: Insights from India
Nidhi Vijay, Ashok Gupta, Priyanshu Mathur, and Megha Sharma
Case Studies
A Case Report of Shwachman-Diamond Syndrome and Literature Review
Xinfeng Gao and Jizhong Wang