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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
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The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.
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- European Journal of Neuroscience, 2019, v. 50, n. 12, p. 3906, doi. 10.1111/ejn.14533
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- Article