Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

PURPOSE: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dors...

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Detalles Bibliográficos
Autores principales: Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099/
https://www.ncbi.nlm.nih.gov/pubmed/28383544
http://dx.doi.org/10.1038/gim.2017.20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099/
https://www.ncbi.nlm.nih.gov/pubmed/28383544
http://dx.doi.org/10.1038/gim.2017.20

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