TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

Akira Kinoshita  ^{1  2  3} ,  Yasuyuki Fukumaki  ¹ ,  Shuya Shirahama  ⁴ ,  Akira Miyahara  ⁴ ,  Gen Nishimura  ⁵ ,  Nobuhiko Haga  ⁶ ,  Atsushi Namba  ⁷ ,  Hitoshi Ueda  ⁸ ,  Hiromi Hayashi  ⁹ ,  Shiro Ikegawa  ¹⁰ ,  Joerg Seidel  ¹¹ ,  Norio Niikawa  ^{2  3} ,  Koh-Ichiro Yoshiura  ^{2  3}