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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Guo, Long; Bertola, Debora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; da Silva Franco, Jose Francisco
2019
卷号104期号:5页码:925-935
关键词CSF1R HDLS Pyle disease dysosteosclerosis leukoencephalopathy mutation osteoclast osteosclerosis skeletal dysplasia
ISSN号0002-9297
DOI10.1016/j.ajhg.2019.03.004
URL标识查看原文
收录类别SCIE ; PUBMED
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/6341761
专题中国医学科学院 北京协和医学院
推荐引用方式
GB/T 7714
Guo, Long,Bertola, Debora Romeo,Takanohashi, Asako,et al. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation[J],2019,104(5):925-935.
APA Guo, Long.,Bertola, Debora Romeo.,Takanohashi, Asako.,Saito, Asuka.,Segawa, Yuko.,...&Ikegawa, Shiro.(2019).Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.,104(5),925-935.
MLA Guo, Long,et al."Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation".104.5(2019):925-935.
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