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Article

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Journal of the American Society of Nephrology : JASN - 1 Sept 2000

Knoers Nine V A M, Bongers Ernie M H F, Beersum Sylvia E C VAN, Lommen Ed J P, Bokhoven Hans VAN, Hol Frans A

Abstract excerpt

Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort...

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PMID: 10966502
DOI: 10.1681/ASN.V1191762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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