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A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

Ceren SaygıYasemin AlanayUğur SezermanAslı YenenlerNesrin Özören
Published 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.
Keyphrases
  • genome wide
  • intellectual disability
  • gene expression
  • biofilm formation
  • protein protein
  • small molecule
  • binding protein