Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report
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Published:2024-11
Issue:6
Volume:50
Page:101572
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ISSN:1262-3636
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Container-title:Diabetes & Metabolism
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language:en
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Short-container-title:Diabetes & Metabolism
Author:
Samhani C.,
Guerci B.,
Larose C.ORCID
Reference18 articles.
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3. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly;Gillis;J Med Genet,2014
4. Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus;Zung;Am J Med Genet A,2015
5. Case Report: compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities;Narayanan;F1000Res,2015