Identification of loss-of-function mutations of <i>SLC35D1</i> in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
Tatsuya Furuichi(Iwate University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Ayça Dilruba Aslanger(Koç University), Andrea Superti‐Furga(University of Lausanne), Hülya Kayserili(Istanbul University), Yasemin Alanay(Hacettepe University), Gen Nishimura(Musashino University), Shûichi Hiraoka(Institute for Molecular Science), Sheila Unger(University of Lausanne), Haruhiko Koseki(RIKEN Center for Integrative Medical Sciences), JUAN LERENA, Daniel H. Cohn(University of California, Los Angeles), Hirofumi Ohashi(Aichi Medical University)
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