Nail-patella syndrome
Author:
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Clinical Biochemistry,Physiology
Link
http://link.springer.com/article/10.1007/s00424-017-2013-z/fulltext.html
Reference82 articles.
1. Ben-Bassat M, Cohen L, Rosenfeld J (1971) The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 92:350–355
2. Bongers EMHF, Gubler M-C, Knoers NVAM (2002) Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 17:703–712
3. Bongers EMHF, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJC, Huygen PLM, Cruysberg JRM, Toolens PAMP, Prins JB, Krabbe PFM, Borm GF, Schoots J, van Bokhoven H, van Remortele AMF, Hoefsloot LH, van Kampen A, Knoers NVAM (2005) Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 13:935–946
4. Bongers EMHF, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NVAM (2008) Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16:1240–1244
5. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler M-C, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349–354
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