Expansile Skeletal Hyperphosphatasia Is Caused by a 15-Base Pair Tandem Duplication inTNFRSF11AEncoding RANK and Is Allelic to Familial Expansile Osteolysis
Open Access
- 1 January 2002
- journal article
- research article
- Published by Oxford University Press (OUP) in Journal of Bone and Mineral Research
- Vol. 17 (1) , 26-29
- https://doi.org/10.1359/jbmr.2002.17.1.26
Abstract
Expansile skeletal hyperphosphatasia (ESH) is a singular disorder characterized in the year 2000 in a mother and daughter with early-onset deafness, premature loss of teeth, progressive hyperostotic ...Keywords
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