Journal of Paediatric Genetics (JPG) aims to be an English multidisciplinary peer-reviewed international and Open Access journal publishing articles on all aspects of genetics in childhood and genetics of experimental models. JPG, the official publication of the World Paediatric Association, embodies the overarching goals of the association by using the latest research developments for clinical genetics, molecular genetics, biochemical genetics, formal genetics, neuropsychiatric genetics, behavioural genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes and molecular embryology of birth defects.
Current Issue: Volume 14, Issue 1 (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
Review Articles
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
Letters to the Editor
Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis
Vykuntaraju K. Gowda, Sharath Babu, and Varunvenkat M. Srinivasan