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Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance by Guo-Yuan Yang, Xi Huang, Bing-Jie Chen, Zhu-Ping Xu, Li-Shao Guo
Published 2021-06-01
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A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1 by Jun Chen, Bo Guo, Min Ren, Hong Lin, Xin Zhang, Si-Yi Chen, Xiao-Tian Yu, Zhu-Ping Xu
Published 2018-09-01
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