Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene. In this case, we report a proband and her son, both affected by NPS. The proband presented with kidney failure and exhibited classical NPS deformities that had gone undiagnosed previously. As her son also had...

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