Disease: Complex 2 mitochondrial respiratory chain deficiency One case of torsades de pointes with Aase’s syndrome induced by moxifloxacin
Disease: Complex 5 mitochondrial respiratory chain deficiency Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis? Diagnostic Efficacy of Digital Dermoscopy and Clinical Findings in Thin Melanoma of the Lower Limbs.
Disease: Conductive deafness malformed external ear Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis? Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
Disease: Cone dystrophy- x-linked- with tapetal-like sheen Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?
Disease: Pseudo-Zellweger syndrome Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
