N Engl J Med. 2016 Jun 30;374(26):2553-62. doi: 10.1056/NEJMoa1509342.
CONCLUSIONS: Our study showed that Pyle’s disease was caused by a deficiency of sFRP4, that cortical-bone and trabecular-bone homeostasis were governed by different mechanisms, and that sFRP4-mediated cross-regulation between Wnt and BMP signaling was critical for achieving proper cortical-bone thickness and stability.
Autor: Simsek Kiper PO,Saito H,Gori F,Unger S,Hesse E,Yamana K,Kiviranta R,Solban N,Liu J,Brommage R,Boduroglu K,Bonafé L,Campos-X. B,Dikoglu E,Eastell R,Gossiel F,Harshman K,Nishimura G,Girisha KM,Stevenson BJ, akita H,Rivolta C,Superti-Furga A,Baron R