Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation-Reference-Cited by-同舟云学术

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

Published:2017-03-23 Issue:1 Volume:18 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Nakata Tomohiro,Ishida Ryo,Mihara Yuu,Fujii Atsuko,Inoue Yoshimoto,Kusaba Tetsuro,Isojima Tsuyoshi,Harita Yutaka,Kanda Chiaki,Kitanaka Sachiko,Tamagaki Keiichi

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/content/pdf/10.1186/s12882-017-0516-7.pdf

Reference17 articles.

1. Beals RK, Eckhardt AL. Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds. J Bone Joint Surg Am. 1969;51:505–16.

2. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153–62.

3. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703–12.

4. Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51–5.

5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345–54.

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