Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Authors:	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

Institution:	Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

Abstract:

Keywords:	MRPS22 combined OXPHOS deficiency mitochondrial translation Cornelia de Lange-like phenotype
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