Content Posted in 2025
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 Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome, Meredith Barrientez, Katherine Forrester, and Margaret Rozier-Chen
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
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
CONTRIBUTING REVIEWERS IN 2024, - -
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
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
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
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
Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis, Vykuntaraju K. Gowda, Sharath Babu, and Varunvenkat M. Srinivasan
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
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
Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning, Srilatha Kadali, Shaik Mohammad Naushad, and Vijaya Lakshmi Bodiga
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
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
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
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
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
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