A novel gene (<i>FAM20B</i> encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
Yukiko Kuroda(Children's Hospital of Philadelphia), Kenji Kurosawa(Kanagawa Children's Medical Center), Yumi Enomoto(Kanagawa Children's Medical Center), Gen Nishimura(Musashino University), Hiroaki Murakami(Kanagawa Children's Medical Center), Kanako Mitsuzuka(Tokai University), Hitoshi Ishimoto(Keio University), Kazumi Takahashi(Tokai University Hospital), Yoshinori Tsurusaki(Yokohama City University)
Cited by 30
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