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A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
Synpolydactyly 1 (SPD1; OMIM 186000), also known as type II syndactyly, is a dominantly inherited limb malformation that is characterized by an increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions in the coding region of the HOXD13 gene, which are believed to sho...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296310/ https://www.ncbi.nlm.nih.gov/pubmed/21814222 http://dx.doi.org/10.1038/jhg.2011.84 |