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T1  - Skeletal and extra-skeletal characteristics of WNT1 osteoporosis 
SN  -  /  
UR  - URN:ISBN:978-951-51-4261-0; http://hdl.handle.net/10138/235544 
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A1  - Mäkitie, Riikka 
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PB  - Helsingin yliopisto 
Y1  - 2018 
LA  - en 
AB  - Genetic factors are of key importance in governing bone health and usually determine an individual’s skeletal characteristics in a complex and polygenic manner. Recent research has, however, identified several monogenic forms of bone diseases where the deleterious molecular changes in one gene overrule and lead to a distinct skeletal pathology. In 2013, our research group showed that a heterozygous mutation in WNT1 leads to severe, early-onset dominantly inherited osteoporosis. Although many oth... 
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