Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.

Amira KohilAtiyeh M AbdallahKhalid HussainMashael Al-Shafai

Published in: Orphanet journal of rare diseases (2023)

This systematic review highlights the molecular basis and clinical manifestations of WSS globally, including the GME region, where the disease is prevalent due to consanguinity. Additional studies are now needed to understand the genotype-phenotype correlation for different DCAF17 variants and their impact on the phenotypic heterogeneity observed in WSS patients.

Keyphrases

systematic review
end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
copy number
meta analyses
peritoneal dialysis
risk factors
single cell
case report
gene expression