Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
December 2021
in “
Journal of clinical laboratory analysis
”
Studysummary This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
Read the full study on onlinelibrary.wiley.com →