tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causal nonsense mutation, which changed an arginine cod...

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Hauptverfasser: Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L., Wuyts, Wim, Julier, Cécile, Chakera, Ali J., Ellard, Sian, Hattersley, Andrew T., Abramowicz, Marc, Cnop, Miriam
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3814312/
https://ncbi.nlm.nih.gov/pubmed/24204302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003888
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