Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome

Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, skeletal deformities, and iliac horns, which is caused by heterozygous variants of LMX1B. Nephropathy ranging from mild urinary abnormality to end-stage renal disease occurs in some indivi...

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Detalles Bibliográficos
Autores principales: Harita, Yutaka, Urae, Seiya, Akashio, Riki, Isojima, Tsuyoshi, Miura, Kenichiro, Yamada, Takeshi, Yamamoto, Katsusuke, Miyasaka, Yasunori, Furuyama, Masayuki, Takemura, Tsukasa, Gotoh, Yoshimitsu, Takizawa, Hideki, Tamagaki, Keiichi, Ozawa, Atsushi, Ashida, Akira, Hattori, Motoshi, Oka, Akira, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608088/
https://www.ncbi.nlm.nih.gov/pubmed/32457516
http://dx.doi.org/10.1038/s41431-020-0655-3

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