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Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice
Clubfoot affects 1 in 1000 live births, although little is known about its genetic or developmental basis. We recently identified a missense mutation in the PITX1 bicoid homeodomain transcription factor in a family with a spectrum of lower extremity abnormalities, including clubfoot. Because the E13...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2011
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3177645/ https://ncbi.nlm.nih.gov/pubmed/21775501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr313 |
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