[1] Teissier N,Jacquemont ML,Blancal JP,et al.Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft[J].Cleft Palate Craniofac J,2009,46(1):93-96.
[2] Naeem M,Sheikh S,Ahmad W.A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin[J].BMC Med Genet,2009,10:76.
[3] 段庆红,焦俊,余蕾,等.致密性骨发育不全1例[J].实用放射学杂志,2010,26(7):942.
[4] Mujawar Q,Naganoor R,Patil H,et al.Pycnodysostosis with unusual findings:a case report[J].Cases J,2009,2:6544.
[5] Schilling AF,Mulhausen C,Lehmann W,et al.High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K[J].Osteoporos Int,2007,18(5):659-669.
[6] Karamizadeh ZM,Ilkhanipoor HM,Bagheri FM.Effect of growth hormone treatment on height velocity of children with pycnodysotosis[J].Iran J Pediatr,2014,24(2):161-165.
[7] Bromme D,Panwar P,Turan S.Cathepsin K osteoporosis trials,pycnodysostosis and mouse deficiency models:commonalities and differences[J].Expert Opin Drug Discov,2016,11(5):457-472.