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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| Main Authors: | , , , , |
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| Format: | Book |
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Galenos Yayincilik,
2023-03-01T00:00:00Z.
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