A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference4 articles.
1. Epilepsy in children with type 1 diabetes mellitus: pathophysiological basis and clinical hallmarks;Mastrangelo;Eur J Paediatr Neurol,2019
2. tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans;Igoillo-Esteve;PLoS Genet,2013
3. TRMT10A mutation in a child with diabetes, short stature, microcephaly and hypoplastic kidneys;Stern;J Clin Res Pediatr Endocrinol,2021
4. Expanding the phenotype of TRMT10A mutations: case report and a review of the existing cases Şıklar Z et al. TRMT10A mutation and expanding the phenotype;Şiklar,2021
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