Article

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: Triangular lunula of the thumb and lack of finger creases as clues

2023-12-06

Abstract excerpt

<title>Abstract</title> <p>Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the <italic>LMX1B</italic> gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show non...

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Literature Corpus work: ce8da855-8f61-5351-8df1-aafcec72229f
DOI: 10.21203/rs.3.rs-3701762/v1

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