A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Atsushi Miyake(Keio University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Tatsuya Furuichi(Iwate University), Kazuhiro Chiba(Akita Prefectural University), Toru Futami(Shiga Medical Center for Children), Hirofumi Ohashi(Aichi Medical University), Yoshiaki Toyama(Keio University), Gen Nishimura(Musashino University)
Cited by 24
Related Papers
DC-STAMP is essential for cell–cell fusion in osteoclasts and foreign body giant cells
|The Journal of Experimental Medicine|2005|899
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