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Aphaia Roussel

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Articles

Congenital Erythrocytosis Associated With Hb Johnstown and PIEZO1 Variants: Challenges in the Interpretation of Complex Genetic Findings

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By Mathieu Cerino, AP-HM Marseille France, Aphaia Roussel
| Wiley Online Library Verified
To the Editor: Congenital erythrocytosis is rare in children. High oxygen affinity haemoglobins (HOAHs) represent one of the recognised causes of constitutional erythrocytosis, though abnormalities of the erythropoietin receptor and oxygen-sensing pathway are more frequently identified [1, 2]. The growing use of next-generation sequencing (NGS) has led to the discovery of additional variants whose clinical significance often remains uncertain [3].
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