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A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.
Lidral AC, Liu H, Bullard SA, Bonde G, Machida J, Visel A, Uribe LM, Li X, Amendt B, Cornell RA. Lidral AC, et al. Among authors: li x. Hum Mol Genet. 2015 Jul 15;24(14):3895-907. doi: 10.1093/hmg/ddv047. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652407 Free PMC article.
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Among authors: li eb, li x. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.
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