Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Gardeitchik, T.; Mohamed, M.; Ruzzenente, B.; Karall, D.; Guerrero Castillo, S.; Dalloyaux, D.; Brand, M.A. van den; Kraaij, S.A.W. van; Hoischen, A.; Rodenburg, R.J.T.; Brandt, U.; Brouwer, A.P.M. de; Nijtmans, L.G.J.; Wevers, R.A.; Metodiev, M.D.; Morava, E.

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Publication year

2018

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Guerrero Castillo, S.

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American Journal of Human Genetics, 102, 4, (2018), pp. 685-695

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0002-9297

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https://doi.org/10.1016/j.ajhg.2018.02.012

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Article / Letter to editor

Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/190921

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

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