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

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

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...

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Bibliographic Details
Main Authors: Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Pediatrics
Subjects:
congenital erythrocytosis
hypermanganesemia
SLC30A10
HMNDYT1
genetic testing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1319885/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1319885/full

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