The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Yasuyuki Fukuhara(Keio University Hospital), Gen Nishimura(Musashino University), Ryuichi Mashima(National Center For Child Health and Development), Torayuki Okuyama, Maki Fukami(National Center For Child Health and Development), Atsushi Hattori(National Center For Child Health and Development), Sung Yong Cho(European Association of Urology), Joo‐Hyun Seo(Korea Institute for Advanced Study), Dong‐Kyu Jin(Samsung Medical Center), Motomichi Kosuga(National Center For Child Health and Development), Osamu Miyazaki(National Center For Child Health and Development)
Cited by 17
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
Nosology and classification of genetic skeletal disorders: 2015 revision
|American Journal of Medical Genetics Part A|2015|570
Nosology of genetic skeletal disorders: 2023 revision
|American Journal of Medical Genetics Part A|2023|386