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T1  - Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility 
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UR  - http://hdl.handle.net/10138/241195 
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A1  - Makitie, Riikka E.; Kampe, Anders J.; Taylan, Fulya; Makitie, Outi 
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Y1  - 2017 
LA  - eng 
AB  - Purpose of Review This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. Recent Findings Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identif... 
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KW  - Primary osteoporosis; WNT1; PLS3; XYLT2; Osteogenesis imperfect; RECESSIVE OSTEOGENESIS IMPERFECTA; VAN-BUCHEM-DISEASE; WNT1 MUTATIONS; PEDIATRIC OSTEOPOROSIS; SOST GENE; PLASTIN 3; FAMILIES; DENSITY; PHENOTYPE; CHILDREN; 3121 General medicine, internal medicine and other clinical medicine 
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