Show Summary Details
Page of

LMX1B and the Nail-Patella Syndrome 

LMX1B and the Nail-Patella Syndrome
LMX1B and the Nail-Patella Syndrome

Philippe M. Campeau

, Nadejda A. Bespalova

, and Brendan H. Lee

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.