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
This publication has 6 references indexed in Scilit:
- Evaluation of the role of RANK and OPG genes in Paget’s disease of boneBone, 2001
- Expansile Skeletal Hyperphosphatasia: A New Familial Metabolic Bone DiseaseJournal of Bone and Mineral Research, 2000
- Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisNature Genetics, 2000
- Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligandProceedings of the National Academy of Sciences, 1999
- Mendelian Inheritance in ManPublished by Project MUSE ,1998
- Familial Expansile Osteolysis: A Genetic Model of Paget’s DiseasePublished by Springer Nature ,1996