<i>TGFB1</i> mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP‐domain‐specific mutations
Akira Kinoshita, Koh‐ichiro Yoshiura(Japan Science and Technology Agency), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Shuya Shirahama, Nobuhiko Haga(Boston Children's Hospital), Hiromi Hayashi(Sapporo Medical University), J. Seidel(Friedrich Schiller University Jena), Akira Miyahara(Czech Academy of Sciences, Institute of Plasma Physics), Yasuyuki Fukumaki(Kyushu University), Atsushi Namba(Hirosaki University), Norio Niikawa(Nagasaki University), Hitoshi Ueda(Osaka International Cancer Institute)
Cited by 22
Related Papers
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
|Nature Genetics|2020|599
Nosology and classification of genetic skeletal disorders: 2015 revision
|American Journal of Medical Genetics Part A|2015|570
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population
|Nature Genetics|2017|510