Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
Long Guo(Second Affiliated Hospital of Xi'an Jiaotong University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Nursel Elçioğlu(Guy's Hospital), Naomichi Matsumoto(Yokohama City University), Zheng Wang(Chinese Academy of Medical Sciences & Peking Union Medical College), Noriko Miyake(National Center for Global Health and Medicine), Pınar İşgüven(Istanbul Medeniyet University), Yasemin Kendir Demirkol(Dana-Farber Cancer Institute)
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