Expansile Skeletal Hyperphosphatasia Is Caused by a 15-Base Pair Tandem Duplication in<i>TNFRSF11A</i>Encoding RANK and Is Allelic to Familial Expansile Osteolysis
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 widening of long bones causing painful phalanges in the hands, accelerated bone remodeling,...
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| Glavni autori: | , |
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| Format: | Artigo |
| Jezik: | engleski |
| Izdano: |
2002
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| Online pristup: | https://doi.org/10.1359/jbmr.2002.17.1.26 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2002.17.1.26 |
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