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Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017; 469:927-936.","DOI":"10.1007\/s00424-017-2013-z"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Bongers EM, Huysmans FT, Levtchenko E, <i>et al<\/i>. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005; 13:935-946.","DOI":"10.1038\/sj.ejhg.5201446"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F. Nail-Patella Syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016; 24:44-50.","DOI":"10.1038\/ejhg.2015.77"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: From nail-patella syndrome to isolated nephropathy. 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Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqu\u00e9 C, G\u00f3mez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Guti\u00e9rrez de la Iglesia D, Gonz\u00e1lez-Ense\u00f1at MA. Nail-patella syndrome: Report of 11 pediatric cases. J Eur Acad Dermatol Venereol. 2016; 30:1614-1617.","DOI":"10.1111\/jdv.13683"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Kadrmas JL, Beckerle MC. The LIM domain: From the cytoskeleton to the nucleus. Nat Rev Mol Cell Biol. 2004; 5:920-931.","DOI":"10.1038\/nrm1499"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Mukai M, Fujita H, Umegaki-Arao N, Sasaki T, Yasuda-Sekiguchi F, Isojima T, Kitanaka S, Amagai M, Kubo A. A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. J Dermatol Sci. 2018; 90:90-93.","DOI":"10.1016\/j.jdermsci.2017.12.010"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet. 2000; 9:1067-1074.","DOI":"10.1093\/hmg\/9.7.1067"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV. 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. 2008; 16:1240-1244.","DOI":"10.1038\/ejhg.2008.83"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet. 2002; 3:285-298.","DOI":"10.1038\/nrg775"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F. 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