WLS-related Zaki syndrome: New clinical features and evidence for p.(Tyr478Cys) variant as a possible mutational hotspot

doi:10.1016/j.ejmg.2026.105101

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Article

WLS-related Zaki syndrome: New clinical features and evidence for p.(Tyr478Cys) variant as a possible mutational hotspot

1 Aug 2026

Abstract excerpt

INTRODUCTION: The Wnt ligand secretion mediator is encoded by WLS, and biallelic variants in this gene have been associated with an ultra-rare syndrome known as Zaki syndrome (ZKS). This study presents the fourteenth documented case of ZKS globally and reviews the clinical and genetic information of previously identified ZKS patients. METHODS: A 17-year-old female from Iran underwent whole-exome sequencing due to...

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PMID: 42641982
DOI: 10.1016/j.ejmg.2026.105101

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