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

• Main Authors: Zeynep Şıklar (Author), Tuğba Kontbay (Author), Kevin Colclough (Author), Kashyap A. Patel (Author), Merih Berberoğlu (Author)
• Format: Book
• Published: Galenos Yayincilik, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...