The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between
common and rare disease genetics. HBM may arise from carriage of many 'high bone …

Abstract Purpose of Review Recent advancements in “omics” technologies and
bioinformatics have afforded researchers new tools to study bone biology in an unbiased …

The technological progress of massively parallel sequencing (MPS) has triggered a
remarkable development in the research on postzygotic mutations. Although the …

Monogenic high bone mass (HBM) disorders are characterized by an increased amount of
bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders …

Melorheostosis, also known as Leri-Joanny disease, 1 is a very rare skeletal dysplasia
manifesting as regions of bone sclerosis with a characteristic flowing candle wax …

Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1%
of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with …

Background Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with
asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution …