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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 TVolume:
19
Year:
2010
Language:
english
Pages:
6
DOI:
10.1038/ejhg.2010.214
File:
PDF, 383 KB
english, 2010