A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
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DOI: 10.1111/cge.14127
Abstract: Genetic defect in the nuclear encoded subunits of cytochrome c oxidase are very rare. To date, most deleterious variants affect the mitochondrially encoded subunits of complex IV and the nuclear genes encoded for assembly factors.… read more here.
Keywords: lactic acidosis; thrive lactic; cox5a; failure thrive ... See more keywords