Publications by authors named "Milit Marom-David"
Am J Med Genet A
April 2017
Article Synopsis
- PTRH2 is a crucial mitochondrial protein linked to various health issues and was found mutated in patients from two families with serious developmental and neurological conditions.
- A new case of three siblings showed similar symptoms like hearing loss and peripheral neuropathy but differed in severity and intelligence compared to previous reports.
- Genetic testing identified a specific mutation in the PTRH2 gene, highlighting the diverse effects of such mutations on health and development.
