Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis

ConclusionTo the best of our knowledge, this is the first report of early onset dysfunctional voiding, seizures, and bilateral spasticity of the lower limbs associated with a novel heterozygous dominant missense variant inDSTYK.

http://link.springer.com/10.1186/s40348-021-00122-y

Source: Molecular and Cellular Pediatrics - October 4, 2021 Category: Cytology Source Type: research