Article

The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes

2026-02-17

Abstract excerpt

Robinow Syndrome is a polygenic, rare skeletal disorder characterized by craniofacial and limb defects. The genes involved are in the Wingless-related Integration site-1 (WNT) pathway and DVL1 (Dishevelled 1) is the most commonly affected gene. In all pathogenic variants of DVL1, a frameshift replaces the C terminus with a novel peptide. We tested whether the variant DVL1 1519ΔT was sufficient to alter developme...

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Literature Corpus work: 48dfc1b4-09ed-5711-b2f5-0c6ed6c562e0
DOI: 10.64898/2026.02.14.705933

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