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Article

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2017

Harita Yutaka, Kitanaka Sachiko, Isojima Tsuyoshi, Ashida Akira, Hattori Motoshi

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Recent genetic analysis...

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Identifiers

PMID: 27450397
DOI: 10.1007/s00467-016-3462-x

Genes

NPS

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