Content Posted in 2026
A Case Report of Shwachman-Diamond Syndrome and Literature Review, Xinfeng Gao and Jizhong Wang
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
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
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
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
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
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
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