Shiang R, Tompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994; 78:335–42.
288
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Mutations in the gene encoding fbroblast growth factor receptor-3 in achondroplasia. Nature. 1994; 371:252–4.
289
Richete P, Bardin T, Stheneur C. Achondroplasia: from genotype to phenotype. Joint Bone Spine. 2008; 75:125–30.
290
Baron J, Klein KO, Colli MJ, Yanovski JA, Novosad JA, Bacher JD, Cutler GB Jr Catch-up growth after glucocorticoid excess: a mechanism intrinsic to the growth plate. Endocrinology. 1994; 135:1367–71.
291
Chagin AS, Karimian E, Sundström K, Eriksson E, Sävendahl L. Catch-up growth after dexamethasone withdrawal occurs in cultured postnatal rat metatarsal bones. J Endocrinol. 2010; 204:21–9.
292
Kronenberg HM. PTHrP and skeletal development. Ann N Y Acad Sci. 2006; 1068:1–13.
293
Gafni RI, Baron J. (2000) Catch-up growth: possible mechanisms. Pediatr Nephrol. 2000; 14: 616–19.
294
Grumbach MM. Mutations in the synthesis and action of estrogen: the critical role in the male of estrogen on pubertal growth, skeletal maturation, and bone mass. Ann N Y Acad Sci. 2004; 1038:7–13.
295
Chagin AS, Sävendahl L. Genes of importance in the hormonal regulation of growth plate cartilage. Horm Res. 2009; 71 Suppl 2:41–7.
296
Grumbach MM. Estrogen, bone, growth and sex: a sea change in conventional wisdom. J Pediatr Endocrinol Metab. 2000; 13 Suppl 6:1439–55.
297