Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
Long Guo(Second Affiliated Hospital of Xi'an Jiaotong University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Hatice Mutlu Albayrak(Gaziantep Children's Hospital), Bilge Noyan(Marmara University), Nursel Elçioğlu(Guy's Hospital), Shuhei Yamada(Japan Cancer Society), Naomichi Matsumoto(Yokohama City University), Noriko Miyake(National Center for Global Health and Medicine), Zheng Wang(Chinese Academy of Medical Sciences & Peking Union Medical College), Shuji Mizumoto(Hokkaido University)
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