DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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

  • 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

  • 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

  • Publication Date: 04 December 2024

    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

  • Publication Date: 23 October 2024

    Case Based Review