Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Nail-patella syndrome
por: Kundu, Zile Singh, et al.
Publicado: (2018) -
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
por: Rueda, Manuel, et al.
Publicado: (2017) -
Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
por: Rueda, Manuel, et al.
Publicado: (2018) -
Kidney disease in nail–patella syndrome
por: Lemley, Kevin V.
Publicado: (2008) -
Retrospective Diagnosis of Nail-patella Syndrome
por: Virani, Zaheer A., et al.
Publicado: (2021)