Journal of Pediatric Genetics

Issue 04 ·
Volume 14 · 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

A Case Report of Shwachman-Diamond Syndrome and Literature Review

Xinfeng Gao and Jizhong Wang

All articles are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License and are freely accessible for non-commercial use.