Most Recent Additions*
A Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome
Meredith Barrientez, Katherine Forrester, and Margaret Rozier-Chen
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
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
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
Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning
Srilatha Kadali, Shaik Mohammad Naushad, and Vijaya Lakshmi Bodiga
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
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
Novel SUCLG1 Variants in a Patient with Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency
Devlynne S. Ondusko, Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich, Sacha Ferdinandusse, Roxanne A. Van Hove, Jonathan N. Pruneda, Brian Scottoline, and Kimberly A. Kripps
46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1
Mehmet Ali OKTAY, Agah AKIN, Esra DÖĞER, Gülsüm KAYHAN, Gizem Eşme KOCAMAN, Mahmut Orhun ÇAMURDAN, and Aysun BİDECİ
A New Case of Kilquist’s Syndrome with a Novel Variant in SLC12A2 and a Brief Review of the Literature
Hatice Yelda Yalçin, Yiğithan Güzin, Tayfun Cinletil, Berk Özyilmaz, Gamze Uzan, Melis Köse, and Figen Baydan
EGFR Mutation in Neonatal Nephrocutaneous Syndrome: Unveiling a Genetic Challenge
Manuela S. Lopes, Cátia Martins, Ana Ferraz, Joana Rosmaninho-Salgado, Rui Castelo, Joaquim Tiago, and Leonor Ramos
A Child with Non-Growth Hormone-Deficient Short Stature with Chromosome 2 Deletion of 2q35-36.1: A Case Report and Literature Review of Haploinsufficiency of Epha4 Gene
Jun Sun, Ya Xiao, Shu-Qin Jiang, Yi-Fan Wang, Hong-Ru Zhang, and Wei Wang
The First Turkish Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect and Pelvicaliectasia Caused by a Novel Homozygous Frameshift Variation in FLNB
Esra Dirimtekin, Esra Arslan Ateş, Hamza Polat, Eda Almus, and Bilgen B. Geckinli
Systematic Review About Clinical and Radiologic Manifestations in Patients with FATCO Syndrome
D’karlo Yosue Dongo Cornejo, Wendy Alessandra Gutiérrez Baca, Maria Cristina Laso Salazar, and Hugo Hernán Abarca-Barriga
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis
Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal, Kenza Soulami, Abdelaziz Sefiani, and Jaber Lyahyai
Sleep Disordered Breathing in Children with Achondroplasia: 17 years’ Experience from a Multidisciplinary Team
Maria Jose Guerdile, Virginia Fan, Mariana Del Pino, and Vivian Leske
Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis
Vykuntaraju K. Gowda, Sharath Babu, and Varunvenkat M. Srinivasan
*Updated as of 10/25/25.