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

S. Charles Bronson; E. Suresh; S. Stephen Abraham Suresh Kumar; C. Mythili; A. Shanmugam; S. Charles Bronson; E. Suresh; S.  Stephen Abraham Suresh Kumar; C. Mythili; A. Shanmugam

doi:10.7759/cureus.13174

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