familial expansile osteolysis

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familial expansile osteolysis

A rare autosomal dominant bone disorder (OMIM:174810) characterised by foci of increased bone remodelling, especially in the long bones beginning in early adulthood, often associated with early-onset deafness and loss of dentition.

Molecular pathology
Defects in TNFRSF11A, which encodes a member of the TNF receptor family essential for RANKL-mediated osteoclastogenesis, cause familial expansile osteolysis.
References in periodicals archive ?
This is similar to EOF modulation by polymer brushes containing only one component [18].
Of these, 72 patients (40%) were treated with EOF while the remaining 108 patients (60%) were received LOF.
No relationships could be evidenced between male and female maturity stages except between SPZ and EOF ([tau] = -0.
One of the most common examples used for traditional EOF is a crowd control situation during peacekeeping operations.
A benefit of the new EOF design was the use of exhaust gases to preheat the steel substrate (e.
Asia Pulp & Paper Managing Director Aida Greenbury said: "The serious allegations made by EOF about the Senepis Tiger Sanctuary are wrong in every important regard.
The fraction of the data variance explained by the EOF modes fit to the data, [F.
The room-temperature molten salts based on dialkylimidazolium cation are good candidates for EOF modifiers in organic solvents because of their good stability in air and in water, and miscibility with most solvents used in NACE.
Bayer Industry Services, Best, Best & Krieger, LLP, Credit Suisse Information Technology, Dassault, The Euro Tunnel, French Ministry of Economy and Finance, EOF Technologies, French Social Security, The Gillette Company, Lockheed Martin Space Systems, Mitsubishi Hitec Paper, The National Institute of Health, Pfizer, Inc.
In the BA - WA 1, a total of 80 units are to be created in the KMB, 18 WE promotion model in the Munich model rental model, 30 units in the EOF model model, 38 units in the KomPro / B model and a child crematorium with four groups.
The earlier launch of Target Discovery's EOTrol(TM) product line introduced the ability to precisely control both the magnitude and direction of EOF, and thus to access previously unobtainable CE resolution, reproducibility and throughput capabilities, vastly increasing the value and popularity of CE.