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 ?
The addition of EOTrol(TM) LR completes the product suite for full-range control over EOF, substantially expanding the repertoire of tools for life science researchers, including unprecedented access to important protein isoform separations.
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.
at 5-12; see also CALL EOF Conference Packet, supra note 3, at 3, 6.
In order to reduce the interaction between the analytes and the capillary wall, as well as to modify the magnitude and direction of EOF, imidazolium-based IL analogues were permanently bounded to the capillary wall in two different ways--heterogeneously and homogeneously [35].
Fathia Bahran and Country Director of the IFAD's project portfolio in Yemen Mohammed Abdel-Qader, the importance of activating the role and the performance of the EOF.
He is an avid Educational Opportunity Fund (EOF) student supporter and will work as an EOF resident assistant this summer.
Detrended EOF slopes were assessed with linear regressions to test any departure from zero.
The concurrent Town of Islip predator and hard clam data sets (1992-2003, Table l) were analyzed for spatial and temporal trends using an EOF procedure, which partitioned the variance of the data into modes that represent space patterns with distinct time history.
The EOF was welcomed by the Yemeni government as it brings together the IFAD, AFD and the Islamic Development Bank to fund the project.
EOF programs support students from low-income or educationally disadvantaged backgrounds.