Associated Papers
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Ghoumid J et al.
European Journal of Human Genetics : Ejhg, 2016
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.
Wang WM et al.
The British Journal of Dermatology, 2014
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Marini M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Bongers EM et al.
European Journal of Human Genetics : Ejhg, 2005
Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM et al.
Pediatric Nephrology (berlin, Germany), 2002
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I et al.
American Journal of Human Genetics, 1998
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