WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

This report identifies human skeletal diseases associated with mutations in WNT1. In ten family members with dominantly inherited early-onset osteoporosis, a heterozygous missense variation c.652T>G (p.Cys218Gly) in WNT1 segregated with the disease, and a homozygous nonsense mutation (c.884C>A...

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Hlavní autoři: Laine, Christine M., Joeng, Kyu Sang, Campeau, Philippe M., Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T., Pekkinen, Minna, Wessman, Maija, Heino, Terhi J., Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G., Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R., Cohn, Daniel H., Gibbs, Richard A., Lee, Brendan H., Mäkitie, Outi
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709450/
https://ncbi.nlm.nih.gov/pubmed/23656646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1215458
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