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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Principais autores:	Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop
格式:	Artigo
語言:	Inglês
出版:	Public Library of Science (PLoS) 2013-10-01
叢編:	PLoS Genetics
在線閱讀:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003888&type=printable
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