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

BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms i...

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Detalles Bibliográficos
Autores principales: Nakata, Tomohiro, Ishida, Ryo, Mihara, Yuu, Fujii, Atsuko, Inoue, Yoshimoto, Kusaba, Tetsuro, Isojima, Tsuyoshi, Harita, Yutaka, Kanda, Chiaki, Kitanaka, Sachiko, Tamagaki, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363042/
https://www.ncbi.nlm.nih.gov/pubmed/28335748
http://dx.doi.org/10.1186/s12882-017-0516-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363042/
https://www.ncbi.nlm.nih.gov/pubmed/28335748
http://dx.doi.org/10.1186/s12882-017-0516-7

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