Author:
Parida Preetinanda,Dubbudu Aranya,Biswal Seba Ranjan,Sharawat Indar Kumar,Panda Prateek Kumar
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
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1. Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings;Clinical and Experimental Pediatrics;2023-05-15
2. PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis;Genes;2023-04-30
3. The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan;Neurological Sciences;2022-01-14
4. 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;Cureus;2021-02-06