Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

出版年份 2019 全文链接

标题

作者

关键词

CSF1R, mutation, skeletal dysplasia, osteosclerosis, dysosteosclerosis, Pyle disease, leukoencephalopathy, HDLS, osteoclast

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 104, Issue 5, Pages 925-935

出版商

Elsevier BV

发表日期

2019-04-12

DOI

10.1016/j.ajhg.2019.03.004

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