Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p114 | (1) | ICCBH2017

Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility

Costantini Alice , Skarp Sini , Kampe Anders , Pettersson Maria , Makitie Riikka , Mannikko Minna , Jiao Hong , Taylan Fulya , Lindstrand Anna , Makitie Outi

Objectives: Early-onset osteoporosis is characterized by low bone mineral density (BMD) and reduced bone strength since childhood or young adulthood. Although several monogenic forms have already been identified, the spectrum of mutations and genes behind this condition remain inadequately characterized. Furthermore, it is not clear whether genetic factors determine susceptibility to bone fractures in children with normal BMD. In order to further explore the genetic background...