TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, a raised hemoglobin A1c and positive islet c...

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Detalles Bibliográficos
Autores principales: Stern, Eve, Vivante, Asaf, Barel, Ortal, Levy-Shraga, Yael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176091/
https://www.ncbi.nlm.nih.gov/pubmed/33448213
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176091/
https://www.ncbi.nlm.nih.gov/pubmed/33448213
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0265

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