title: [COX7B mutations in MIDAS syndrome or microphthalmia with linear skin defects (MLS)].
authors.affiliation: Unité Inserm U1058, département de dermatologie, université Montpellier I, hôpital Saint-Eloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. o-dereure@chu-montpellier.fr
authors.forename: O
authors.initials: O
authors.lastname: Dereure
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency / Q000201:enzymology / Q000235:genetics; D004579:Electron Transport / Q000235:genetics / Q000502:physiology; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008190:Lyases / Q000235:genetics; D008297:Male; D008850:Microphthalmos / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D021122:Protein Subunits; D012867:Skin / Q000196:embryology; D012868:Skin Abnormalities / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000196:embryology / Q000235:genetics* / Q000473:pathology
chemical_list: C496843:COX7B protein, human; D021122:Protein Subunits; D003576:Electron Transport Complex IV; D008190:Lyases; C031581:cytochrome C synthetase