A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia

The gene PTRH2 encodes a protein with peptidyl-tRNA hydrolase activity and is involved in the translation process in protein synthesis. The kinesin family member 1-A (KIF1A) gene encodes a molecular motor involved in axonal transport along microtubules. Mutations in these genes lead to respective ph...

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Detalles Bibliográficos
Autores principales: Charles Bronson, S., Suresh, E., Stephen Abraham Suresh Kumar, S., Mythili, C., Shanmugam, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939034/
https://www.ncbi.nlm.nih.gov/pubmed/33717719
http://dx.doi.org/10.7759/cureus.13174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939034/
https://www.ncbi.nlm.nih.gov/pubmed/33717719
http://dx.doi.org/10.7759/cureus.13174

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