Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2007 Jul;18(7):1017-8.
doi: 10.1007/s00198-007-0360-x. Epub 2007 Apr 17.

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

E R Barros, M R Dias da Silva, I S Kunii, O M Hauache, M Lazaretti-Castro
Case Reports

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

E R Barros et al. Osteoporos Int. 2007 Jul.
No abstract available

PubMed Disclaimer

Comment on

  • LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
    Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. Gong Y, et al. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191

References

    1. Cell. 2001 Nov 16;107(4):513-23 - PubMed
    1. Gene. 2004 Oct 27;341:19-39 - PubMed
    1. Genome Res. 2005 Jul;15(7):978-86 - PubMed

Substances

LinkOut - more resources