A Case Report with High Scientific Value
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy
The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this respect. Published in the Journal of Neurogenetics, it describes the 10th patient ever identified to be affected by ZNF355-related disorder.