Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima(Osaka Dental University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), David Chitayat(Mount Sinai Hospital), Roberto Mendoza‐Londono(University of Toronto), Hirofumi Ohashi(Aichi Medical University), Angeline Lai(KK Women's and Children's Hospital), Shuji Mizumoto(Hokkaido University), Shigehiko Watanabe(Saitama Children's Medical Center), Yoshinori Tsurusaki(Yokohama City University), Andrea Superti‐Furga(University of Lausanne), Rika Kosaki(National Center For Child Health and Development), Hiroshi Mitsubuchi(Kumamoto University Hospital), Gen Nishimura(Musashino University), Aya Hirayama, Hiroshi Kitoh(Nagoya University), Osamu Miyazaki(National Center For Child Health and Development), Ryo Kogawa(Hokkaido University), Luisa Bonafé(University of Lausanne), Lucie Dupuis(University of Toronto), Denise P. Cavalcanti(Universidade Estadual de Campinas (UNICAMP)), Sheila Unger(University of Lausanne), Hirotomo Saitsu(Hamamatsu University), Aritoshi Iida(RIKEN Center for Integrative Medical Sciences), Naomichi Matsumoto(Yokohama City University), Kazuyuki Sugahara(Hokkaido University), Ekkehart Lausch(University Medical Center Freiburg), Hironori Ito(Aichi Developmental Disability Center), Gabriela Ferraz Leal(Instituto de Medicina Integral Professor Fernando Figueira), Noriko Miyake(National Center for Global Health and Medicine), Andrew Howard(University of Toronto), Reiko Horikawa(National Center For Child Health and Development)
The American Journal of Human Genetics
May 9, 2013
Cited by 138


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