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Recessive Epidemiology: 5 families, 11 patients Mutations: Missense & Stop COQ6 protein: Coenzyme Q10 synthesis Clinical Onset age: 0 to 7 years Steroid-resistant nephrotic syndrome Sensorineural deafness, bilateral Other CNS Ataxia Seizures Face: Dysmorphism Course: Some patients die in early childhood Laboratory Brain MRI: White matter changes Deafness, Cataracts, Skeletal dysplasia, Polyneuropathy (CAGSSS) 177 Isoleucyl-tRNA synthetase 2 (IARS2)

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Biomedicines 12(10):2300 Peng B, Dai Q, Liu X et al (2024) Fraxin alleviates oral lichen planus by suppressing OCT3-mediated activation of FGF2/NF-B pathway

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Haynes R , Valdes-Marquez E , Hopewell JC , et al