Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report

Nail-Patella syndrome (NPS) is an inherited disease characterized by nail and skeletal anomalies, nephropathy and glaucoma. The diagnosis of NPS is based on clinical findings, including hypoplastic or absent patella, dystrophic nails, dysplasia of the elbows and iliac horns. However, the main determ...

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Detalles Bibliográficos
Autores principales: Carinelli, Soledad, Blanco, Olalla Alvarez, Perdomo-Ramirez, Ana, Claverie-Martin, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490783/
https://www.ncbi.nlm.nih.gov/pubmed/32963778
http://dx.doi.org/10.3892/br.2020.1356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490783/
https://www.ncbi.nlm.nih.gov/pubmed/32963778
http://dx.doi.org/10.3892/br.2020.1356

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