[The nail-patella syndrome: rare genetically determined cause of proteinuria].

Abstract excerpt

Nail-patella syndrome (NPS) is rare genetic disorder with autosomal mode of inheritance resulting from mutations in the LMX1B gene mapped on the long arm of chromosome 9 (9q34), encoding transcription factor, also named LMX1B. This syndrome is characterized by a skeletal malformations, such as dysplasia of the knees (with typical patellar hypoplasia or aplasia), elbows and nails as well as characteristic...

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