Before homozygous NDUFAF5 variants are held responsible for intrauterine death, their pathogenicity must be demonstrated

Abstract

I read with interest the article by Brabbing-Goldstein et al. on a multicenter, retrospective case series of five fetuses with respiratory chain complex-I deficiency from three unrelated, non-consanguineous families associated with the biallelic variants c.327G > C, c.821T > A and