An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
HOXD13 is the most 5' of the HOXD cluster of homeobox genes in chromosome band 2q31.1. Heterozygous expansions of a polyalanine tract in HOXD13 are typically associated with synpolydactyly characterized by insertional digit duplication associated with syndactyly. We screened for mutations of HO...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2003
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