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Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1.
Am J Hum Genet. 2012.
PMID: 22387015
Free PMC article.
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
Neben CL, Idoni B, Salva JE, Tuzon CT, Rice JC, Krakow D, Merrill AE.
Neben CL, et al.
Hum Mol Genet. 2014 Nov 1;23(21):5659-71. doi: 10.1093/hmg/ddu282. Epub 2014 Jun 6.
Hum Mol Genet. 2014.
PMID: 24908667
Free PMC article.
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