Article
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
Journal of human genetics - 1 Sept 2023
Abdel-Salam Ghada M H, Afifi Hanan H, Abdel-Hamid Mohamed S, Ahmed Nermeen E B, Taher Mohamed B, El-Kamah Ghada, Thiele Holger, Nürnberg Peter N, Bolz Hanno J
Abstract excerpt
WLS (Wnt ligand secretion mediator or Wntless) orchestrates the secretion of all Wnt proteins, a family of evolutionary conserved proteins, involved in Wnt signaling pathway that has many essential biological functions including the regulation of development, cell proliferation, migration and apoptosis. Biallelic variants in WLS have recently been described in 10 patients with pleiotropic multiple congenital...
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