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 2 (2025)
Original Research Articles
Unraveling the Etiology of Childhood Hypotonia Using Exome Sequencing
Arya Shambhavi, Amita Moirangthem, Rajesh Kumar Maurya, Varunvenkat M. Srinivasan, Haseena Sait, Somya Srivastava, Renu Suthar, and Shubha R. Phadke
Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning
Srilatha Kadali, Shaik Mohammad Naushad, and Vijaya Lakshmi Bodiga
Diagnosis and Initial Tratment of Gorham-stout’s Disease
Jesús González Cayón, Maria del Carmen San Basilio Berenguer, Julio César Moreno Alfonso, Santiago De la Puente Pérez, Paloma Triana Junco, and Juan Carlos López Gutiérrez
Review Article
Systematic Exploration of TRPV6 Variants in Pancreatitis: Unraveling Genetic Associations and Pathophysiological Insights through Comprehensive Systematic Review and In-Silico Analysis
Omar Alomari, Rumeysa Yegin, Muhammed Edib Mokresh, Ghazaleh Kokabi Ghahremanpour, Nurullah Komurcu, Elif Nur Ari, Magda Wojtara, Ali Karaman, and Abdulqadir J. Nashwan
Case Studies
Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis
Snigdha Verma, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Chhagan Bihari, and Seema Alam
Novel Insights into WDFY3 Pathogenicity: A Case Report of Microcephaly and Epilepsy
Pietra Spinardi, Gabriel Bordignon, Gustavo Moura da Mata Machado Ferreira Pinto, Monica Alexandra de Conto, and Daniel Almeida do Valle
Unresponsiveness to Vitamin Therapy in Twins with Early Onset Biotin-Thiamine Responsive Encephalopathy Type 2 Caused by Biallelic Truncating Variant in SLC19A3 Gene
Siddaramappa J. Patil, Minal Kekatpure, Venkatraman Bhat, Harini Sreedaran, and Rajiv Aggarwal
A Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome
Meredith Barrientez, Katherine Forrester, and Margaret Rozier-Chen