A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
Author:
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference35 articles.
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3. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview;Frontali;Am. J. Med. Genet.,1985
4. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12–13;Gong;Am. J. Hum. Genet.,1996
5. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development;Gong;Cell,2001
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