Associated Papers
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.
Ventura I et al.
Orphanet Journal of Rare Diseases, 2025
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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