Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening

• Principais autores: Rosalinda Giannini (Autor), Emanuele Agolini (Autor), Giuseppe Palumbo (Autor), Antonio Novelli (Autor), Giacomo Garone (Autor), Melissa Grasso (Autor), Giovanna Stefania Colafati (Autor), Marta Matraxia (Autor), Eleonora Piccirilli (Autor), Annalisa Deodati (Autor), Giulia Ceglie (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2024-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due to SLC30A10 bi-allelic mutations and characterized...