ArticleBiomedical reports2020
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.
Article in Biomedical reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Clinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.Pediatric nephrology (Berlin, Germany) · 2026Article
- Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.Clinical nephrology. Case studies · 2026Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach.Cancers · 2021Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
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 determinant of NPS prognosis is nephropathy, which may range from asymptomatic proteinuria to end-stage renal disease. NPS is caused by heterozygous loss-of-function mutations in the
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