split hand-foot malformation 1 (Q42863537)
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A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
- SHFD1
- SHFM1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | split hand-foot malformation 1 |
A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. |
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