Article
Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome
2025-12-17
Abstract excerpt
<title>Abstract</title> <p>WNT5A-driven Wnt/Planar Cell Polarity (Wnt/PCP) signaling is essential for vertebrate limb morphogenesis, and pathogenic WNT5A variants cause autosomal dominant Robinow Syndrome (RS). The recurrent Cys83Ser (C83S) substitution is among the best-studied RS-associated alleles and has been variably described as hypomorphic, loss-of-function, or dominant-negative based largely on overexpres...
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Identifiers and source
- Literature Corpus work
- b4fae48c-0c57-5fd2-acf0-036220047495
- DOI
- 10.21203/rs.3.rs-8283811/v1
