COX7B

Publications

Indrieri A et al. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012; 91(5):942-9. PMID: 23122588.

Indrieri A et al. Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder. Epstein’s Inborn Errors of Development: the molecular basis of clinical disorders in morphogenesis. 3 ed. Oxford, UK: Oxford University Press; (2016). p. 1449-52.

Morleo M et al. Microphthalmia with Linear Skin Defects Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 2009 [updated 2018]. PMID: 20301767.