Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization
Author:
Funder
Austrian Social Insurance for Occupational Risk
Social Health Insurance Vienna
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference36 articles.
1. The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes;Balemans;Endocrinology,2007
2. LRP5: from bedside to bench to bone;Williams;Bone,2017
3. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development;Gong;Cell,2001
4. Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG);Laine;Eur. J. Hum. Genet.,2011
5. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait;Little;Am. J. Hum. Genet.,2002
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