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nail-patella syndrome

MIM.161200 9q34.1

Thursday 14 April 2005

Dysplasia of the nails and absent or hypoplastic patellae are the cardinal features but others are iliac horns, abnormality of the elbows interfering with pronation and supination, and in some cases nephropathy. Nephropathy can be an associated abnormality.

Pathology

- germline mutations in the LIM-homeodomain protein LMX1B (MIM.602575)