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Deletions of 5’ HOXC genes are associated with lower extremity malformations including clubfoot and vertical talus
BACKGROUND: Deletions of the HoxC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Here, we report chromosome 12q13.13 microdeletions ranging from 13-175 kb and involving the 5’ HOXC genes in four families segregating congenital lower limb malformations,...
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| Publicado no: | J Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4955942/ https://ncbi.nlm.nih.gov/pubmed/26729820 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103505 |
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