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tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
BACKGROUND: A syndrome of young‐onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported...
Autores principales: | Yew, T. W., McCreight, L., Colclough, K., Ellard, S., Pearson, E. R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995728/ https://www.ncbi.nlm.nih.gov/pubmed/26526202 http://dx.doi.org/10.1111/dme.13024 |
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