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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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Détails bibliographiques
Auteurs principaux: Alvarado, David M., McCall, Kevin, Aferol, Hyuliya, Silva, Matthew J., Garbow, Joel R., Spees, William M., Patel, Tarpit, Siegel, Marilyn, Dobbs, Matthew B., Gurnett, Christina A.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2011
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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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