278

Cawthorne T. Toulouse-Lautrec – triumph over infrmity. Proc Roy Soc Med 1970;63: 800–5.

279

Maroteaux P, Lamy M. The malady of Toulouse-Lautrec. JAMA. 1995; 191:715–17.

280

Maroteaux P. Toulouse-Lautrec’s diagnosis. Nat Genet. 1995; 11:362–3.

281

Frey JB. What dwarfed Toulouse-Lautrec? Nat Genet. 1995; 10:128–30.

282

Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K defciency. Science. 1996; 273:1236–8.

283

Toral-López J, Gonzalez-Huerta LM, Sosa B, Orozco S, González HP, Cuevas-Covarrubias SA. Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K). J Investig Med. 2011; 59:277–80.

284

Chen W, Yang S, Abe Y, Li M, Wang Y, Shao J, Li E, Li YP. Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence. Hum Mol Genet. 2007; 16:410–23.

285

Boskey AL, Gelb BD, Pourmand E, Kudrashov V, Doty SB, Spevak L, Schafter MB. Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates. Calcif Tissue Int. 2009; 84:229–39.

286

Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P. Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. J Clin Endocrinol Metab. 2010; 95:2827–31.

287