A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy wa...

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Detalles Bibliográficos
Autores principales: Kashiwagi, Yasuyo, Suzuki, Shinji, Agata, Kazushi, Morishima, Yasuyuki, Inagaki, Natsuko, Numabe, Hironao, Kawashima, Hisashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450996/
https://www.ncbi.nlm.nih.gov/pubmed/30293132
http://dx.doi.org/10.1007/s13730-018-0368-4

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