Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Yusuke Nakamura(Nagoya University), Kyoung Chang Kim(Saitama Children's Medical Center), Mamori Kimizuka(National Rehabilitation Center for Persons with Disabilities), Yoshimitsu Fukushima(Saitama Children's Medical Center), Toshiro Nagai, Hirofumi Ohashi(Aichi Medical University), Akio Sannohe(Aomori Prefectural Central Hospital), Gen Nishimura(Musashino University)
Cited by 85
Related Papers
A cross-population atlas of genetic associations for 220 human phenotypes
|Nature Genetics|2021|2.4k
Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping
|Science|1987|1.7k
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