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...

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Detalles Bibliográficos
Autores principales: Yew, T. W., McCreight, L., Colclough, K., Ellard, S., Pearson, E. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
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

Internet

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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