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

• Egile Nagusiak: Zeynep Şıklar (Egilea), Tuğba Kontbay (Egilea), Kevin Colclough (Egilea), Kashyap A. Patel (Egilea), Merih Berberoğlu (Egilea)
• Formatua: Liburua
• Argitaratua: Galenos Yayincilik, 2023-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...