Gene List:
ALPL, ALX4, BMP4, CDC45, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT140, IFT43, IL11RA, MASP1, MEGF8, MSX2, P4HB, POR, RAB23, RECQL4, SEC24D, SKI, SPECC1L, TCF12, TCOF1, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1
References:
Bellus GA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995 Jul;10(3):357-9.
Merrill AE, et al. 2012. Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling. Am J Hum Genet 90: 550–557.
Toydemir RM, et al. 2006. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am. J. Hum. Genet. 79: 935-941.
Agochukwu NB, et al. 2014. Muenke Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle.
Deng C, et al. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84: 911-921.