A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
Ceren SaygıYasemin AlanayUğur SezermanAslı YenenlerNesrin ÖzörenPublished in: BMC medical genetics (2019)
We identified a homozygous deletion mutation in FZD6 in a consanguineous Turkish family with nail dysplasia. We also provide a molecular mechanism about the effects of the deletion on the protein structure and its possible motions. This study provides a pathogenicity mechanism for this mutation in nail dysplasia for the first time.