Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
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DOI: 10.1002/humu.24160
Abstract: Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six… read more here.
Keywords: variants uncertain; functional validation; uncertain significance; fdxr deficiency ... See more keywords