https://www.selleckchem.com/products/bda-366.html
Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF17 gene, characterized by marked neurologic and endocrine manifestations in the setting of brain iron accumulation and white matter lesions on neuroimaging. Here, we report electrophysiologic profiles in Woodhouse-Sakati syndrome and their possible value in understanding disease pathophysiology and phenotypic variability. Thirteen genetically confirmed Woodhouse-Sakati syndrome patients were evaluated via different evoked potential
Mi piace
Commento
Condividi
