Journal of Pediatric Genetics

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eFirst
Publication Date: 28 December 2024
Case-Based Review
Lopes, Manuela S.; Martins, Cátia; Ferraz, Ana; Rosmaninho-Salgado, Joana; Castelo, Rui; Tiago, Joaquim; Ramos, Leonor: EGFR Mutation in Neonatal Nephrocutaneous Syndrome: Unveiling a Genetic Challenge

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Case-Based Review
Yalçın, Hatice Yelda; Güzin, Yiğithan; Cinleti, Tayfun; Özyılmaz, Berk; Uzan, Gamze; Köse, Melis; Baydan, Figen: A New Case of Kilquist's Syndrome with a Novel Variant in SLC12A2 and a Brief Review of the Literature

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Publication Date: 26 December 2024
Case-Based Review
Oktay, Mehmet Ali; Akın, Agah; Döğer, Esra; Kayhan, Gülsüm; Kocaman, Gizem Eşme; Çamurdan, Mahmut Orhun; Bideci, Aysun: 46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1

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Publication Date: 04 December 2024
Case Based Review
Sun, Jun; Xiao, Ya; Jiang, Shu-qin; Wang, Yi-fan; Zhang, Hong-ru; Wang, Wei: 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

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Original Article
Batta, Ourayna; Cherkaoui, Imane J.; Rahmuni, Yasmina; Amllal, Nada; Soulami, Kenza; Sefiani, Abdelaziz; Lyahyai, Jaber: Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis

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Original Article
Guerdile, Maria Jose; Fano, Virginia; Pino, Mariana del; Leske, Vivian: Sleep-Disordered Breathing in Children with Achondroplasia: 17 Years' Experience from a Multidisciplinary Team

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Publication Date: 23 October 2024
Case Based Review
Dirimtekin, Esra; Ates, Esra Arslan; Polat, Hamza; Almus, Eda; Geckinli, Bilgen B.: The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB

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