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 |
DOI | 10.1016/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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