Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
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.; Human Molecular Genetics, 2011, vol. 20, issue 20, p 3943, ISSN 09646906. ISBN 14602083.

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