OBJECTIVE: This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. METHODS: Case report and review of the literature. RESULTS: A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor related protein 5 (LRP5) mutation. CONCLUSION: This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.
OBJECTIVE: This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. METHODS: Case report and review of the literature. RESULTS: A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor related protein 5 (LRP5) mutation. CONCLUSION: This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.
Authors: José A Riancho; José M Olmos; Begoña Pineda; Carmen García-Ibarbia; María I Pérez-Núñez; Daniel N Nan; Javier Velasco; Antonio Cano; Miguel A García-Pérez; María T Zarrabeitia; Jesús González-Macías Journal: Eur J Endocrinol Date: 2010-10-06 Impact factor: 6.664
Authors: Y Gong; R B Slee; N Fukai; G Rawadi; S Roman-Roman; A M Reginato; H Wang; T Cundy; F H Glorieux; D Lev; M Zacharin; K Oexle; J Marcelino; W Suwairi; S Heeger; G Sabatakos; S Apte; W N Adkins; J Allgrove; M Arslan-Kirchner; J A Batch; P Beighton; G C Black; R G Boles; L M Boon; C Borrone; H G Brunner; G F Carle; B Dallapiccola; A De Paepe; B Floege; M L Halfhide; B Hall; R C Hennekam; T Hirose; A Jans; H Jüppner; C A Kim; K Keppler-Noreuil; A Kohlschuetter; D LaCombe; M Lambert; E Lemyre; T Letteboer; L Peltonen; R S Ramesar; M Romanengo; H Somer; E Steichen-Gersdorf; B Steinmann; B Sullivan; A Superti-Furga; W Swoboda; M J van den Boogaard; W Van Hul; M Vikkula; M Votruba; B Zabel; T Garcia; R Baron; B R Olsen; M L Warman Journal: Cell Date: 2001-11-16 Impact factor: 41.582
Authors: A Diez-Perez; K E Naylor; B Abrahamsen; D Agnusdei; M L Brandi; C Cooper; E Dennison; E F Eriksen; D T Gold; N Guañabens; P Hadji; M Hiligsmann; R Horne; R Josse; J A Kanis; B Obermayer-Pietsch; D Prieto-Alhambra; J-Y Reginster; R Rizzoli; S Silverman; M C Zillikens; R Eastell Journal: Osteoporos Int Date: 2017-01-16 Impact factor: 4.507
Authors: Shawna M Pyott; Thao T Tran; Dru F Leistritz; Melanie G Pepin; Nancy J Mendelsohn; Renee T Temme; Bridget A Fernandez; Solaf M Elsayed; Ezzat Elsobky; Ishwar Verma; Sreelata Nair; Emily H Turner; Joshua D Smith; Gail P Jarvik; Peter H Byers Journal: Am J Hum Genet Date: 2013-03-14 Impact factor: 11.025
Authors: Joyce B J van Meurs; Thomas A Trikalinos; Stuart H Ralston; Susana Balcells; Maria Luisa Brandi; Kim Brixen; Douglas P Kiel; Bente L Langdahl; Paul Lips; Osten Ljunggren; Roman Lorenc; Barbara Obermayer-Pietsch; Claes Ohlsson; Ulrika Pettersson; David M Reid; Francois Rousseau; Serena Scollen; Wim Van Hul; Lidia Agueda; Kristina Akesson; Lidia I Benevolenskaya; Serge L Ferrari; Göran Hallmans; Albert Hofman; Lise Bjerre Husted; Marcin Kruk; Stephen Kaptoge; David Karasik; Magnus K Karlsson; Mattias Lorentzon; Laura Masi; Fiona E A McGuigan; Dan Mellström; Leif Mosekilde; Xavier Nogues; Huibert A P Pols; Jonathan Reeve; Wilfried Renner; Fernando Rivadeneira; Natasja M van Schoor; Kurt Weber; John P A Ioannidis; André G Uitterlinden Journal: JAMA Date: 2008-03-19 Impact factor: 56.272
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