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:
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[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]
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