Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T.
Cox TC, et al.
Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18.
Hum Mutat. 2019.
PMID: 31215115
Free PMC article.
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. ...In the second family in which CL/P was the only phenotype, a mutation in FST (encoding the GDF11 antagonist, …
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and e …