Nail-patella syndrome

Definition:

Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia.

References:

[1]. Ernie M H F Bongers, et al. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002 Sep;17(9):703-12. [Content Brief]

[2]. R Morello, et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet. 2001 Feb;27(2):205-8. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

MedChemExpress: Contact Us; About Us; Headquarters; Distributors; Statement on False Report; Careers

Customer Support: Technical Support; Service; Ordering Information; Easy Return; Shipping Rates & Policies; Intellectual Property Promise

Resources: Free Sample; Resources; Molarity Calculator; Dilution Calculator; Terms & Conditions; Reconstitution Calculator; Specific Activity Calculator

Subscribe to our E-newsletter

Products are chemical reagents for research use only and are not intended for human use. We do not sell to patients.

Join with us

Name
Email *

	Sorry, but the email address you supplied was invalid.