DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publikationsdatum: 28 Dezember 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

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

Publikationsdatum: 26 Dezember 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

Publikationsdatum: 04 Dezember 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

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

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

Publikationsdatum: 23 Oktober 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