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A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation.

Seizure - 1 Mar 2024

Uçan Tokuç Firdevs Ezgi, Korucuk Meltem, Kalkan Tarkan, Genç Fatma

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PMID: 38302348
DOI: 10.1016/j.seizure.2024.01.005

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Related research

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A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation.PMID 38302348Read ↗

TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings.Semantic proximity Read ↗

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic KidneysSemantic proximity Read ↗

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.Semantic proximity Read ↗

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesSemantic proximity Read ↗

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.Semantic proximity Read ↗

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.Semantic proximity Read ↗

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.Semantic proximity Read ↗

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