| bibliographicCitation |
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. Eur J Hum Genet. 2023 Jul 19;31(12):1414–20. doi: 10.1038/s41431-023-01433-6. |