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LMX1B and the Nail-Patella Syndrome 

LMX1B and the Nail-Patella Syndrome
Chapter:
LMX1B and the Nail-Patella Syndrome
Author(s):

Philippe M. Campeau

, Nadejda A. Bespalova

, and Brendan H. Lee

DOI:
10.1093/med/9780199934522.003.0103
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date: 24 February 2021

Nail patella syndrome (NPS) is a dominantly inherited skeletal malformation syndrome. Patients have characteristic features including nail and patella hypoplasia, elbow and knee deformities, nephropathy, and ocular defects. The condition is characterized by a high penetrance, variable expressivity, and significant intra-familial variability. Diagnosis is based on clinical criteria. NPS is caused by loss-of-function mutations in the LIM homeodomain (LHX) transcription factor LMX1B. LMX1B specifies a transcriptional network important in pattern formation of the limb as well as cell maturation and differentiation in both the kidney and the CNS.

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