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Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome

2025-12-17

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<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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Literature Corpus work
b4fae48c-0c57-5fd2-acf0-036220047495
DOI
10.21203/rs.3.rs-8283811/v1
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Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow SyndromeDOI 10.21203/rs.3.rs-8283811/v1
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