Condition: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1


rs587777744 in TRMT10A gene and MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 PMID 25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

PMID 26535115 2015 Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

PMID 26526202 2016 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

PMID 24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.