Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kroll-Hermi, A; Ebstein, F; Stoetzel, C; Geoffroy, V; Schaefer, E; Scheidecker, S; Bar, S; Takamiya, M; Kawakami, K; Zieba, B; Studer, F; Pelletier, V; Speeg-Schatz, C; Laugel, V; Lipsker, D; Sandron, F; McGinn, S; Boland, A; Deleuze, J; Kuhn, L; Chicher, J; Hammann, P; Friant, S; Etard, C; Kruger, E; Muller, J; Strahle, U; Dollfus, H

EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (SUPPL 1): 48

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