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Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including m...

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Detalles Bibliográficos
Autores principales:	Şıklar, Zeynep, Kontbay, Tuğba, Colclough, Kevin, Patel, Kashyap A., Berberoğlu, Merih
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976169/ https://www.ncbi.nlm.nih.gov/pubmed/34541035 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0110

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