A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype–Phenotype Correlations
Synpolydactyly (SPD) is a hereditary congenital limb malformation with distinct syndactyly designated as SPD1, SPD2, and SPD3. SPD1 is caused by mutations of HOXD13, which is a homeobox transcription factor crucial for limb development. More than 143 SPD patients have been reported to carry HOXD13 m...
Furkejuvvon:
| Váldodahkkit: | , , , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Frontiers Media S.A.
2021-10-01
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| Ráidu: | Frontiers in Genetics |
| Fáttát: | |
| Liŋkkat: | https://www.frontiersin.org/articles/10.3389/fgene.2021.731278/full |
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