ba0005p315 | Osteoporosis: evaluation and imaging | ECTS2016
Makitie Riikka
, Niinimaki Tuukka
, Nieminen Miika
, Niinimaki Jaakko
, Makitie Outi
Objectives: A heterozygous missense mutation p. C218G in WNT1 was recently identified as the cause of severe primary osteoporosis (Laine et al., New engl J Med 2013). The mutation has thus far been identified in two large Finnish families presenting with dominantly inherited, early-onset osteoporosis, with affected adult patients showing reduced bone mineral density (BMD), vertebral compression fractures, kyphosis and height loss. This study examined characte...