Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy - Smits, Paulien; Saada, Ann; Wortmann, Saskia B.; Heister, Angelien J.; Brink, Maaike; Pfundt, Rolph; Miller, Chaya; Haas, Dorothea; Hantschmann, Ralph; Rodenburg, Richard J. T.; Smeitink, Jan A. M.; van den Heuvel, Lambert P. (European journal of human genetics, 2011)
online veröffentlicht 29 December 2010