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Article

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

American journal of medical genetics. Part A - 1 Jan 2025

Alomari Omar, Ertan Sinem Nur, Mokresh Muhammed Edib, Yazicilar Elif, Pourali Maryam, Akyokus Fatma Esra, Sager Safiye Gunes, Cag Yakup

Abstract excerpt

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...

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Identifiers

PMID: 39166479
DOI: 10.1002/ajmg.a.63855

Genes

FCHO1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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