Article

A novel HOXD13 mutation causes synpolydactyly and promotes osteoclast differentiation by regulating pSMAD5/p65/c-Fos/RANK axis

2022-11-28

Abstract excerpt

<title>Abstract</title> <p>The mutations of <italic>HoxD13</italic> gene have been involved in synpolydactyly (SPD), and the polyalanine extension mutation of <italic>HoxD13</italic> gene could lead to SPD in mice. In this study, a novel missense mutation of <italic>HoxD13</italic> (NM_000523: exon2: c.G917T: p.R306L) was identified in a Chinese family with SPD. The mice carrying the corresponding <italic>HoxD13<...

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Literature Corpus work: 42cc8f01-525b-5400-af25-29a7d506ce80
DOI: 10.21203/rs.3.rs-2230857/v1

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