Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders
Omar Alomari,
Sinem Nur Ertan,
Muhammed Edib Mokresh
et al.
Abstract:FCH domain only 1 (FCHO1) is a key player in clathrin‐mediated endocytosis, vital for various cellular processes, including immune regulation and cancer progression. However, the clinical implications of FCHO1 mutations, particularly in combined immunodeficiency, remain unclear. This systematic review aims to provide an objective analysis of the molecular genetics, clinical manifestations, and potential therapeutic targets associated with FCHO1 mutations. A systematic search following Preferred Reporting Items… Show more
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