JOURNAL, Journal of Pediatric Genetics

Issue 01 · Volume 14 · 2025

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Journal of Pediatric Genetics

Issue 01 ·
Volume 14 · 2025

     Original Research Articles


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

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

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

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

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 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

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

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

Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis

Vykuntaraju K. Gowda, Sharath Babu, and Varunvenkat M. Srinivasan

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

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