Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

Hum MutatOct 2, 2026 (epub)
Clinical ResearchMedical GeneticsNeurologyOphthalmologyOpen access

Antoine Paul, Ghizlene Lahlou, Sophie Achard et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Biallelic pathogenic FDXR variations were identified in 2017 as being responsible for sensorial neuropathies. The first reported patients suffered from auditory and optic sensorineural impairments (ANOA, MIM #617717). Since then, many publications have described various phenotypes including peripheral and central nervous systems impairments (MMDS9B, MIM #620887).

Source

PubMed · PMID 42829511Free full text on PubMed Central

Published in Hum Mutat. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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