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A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report

RATIONALE: Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. PATIENT CONCERNS: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria. DIAGNOSES: Combined with clinical manifestatio...

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Detalles Bibliográficos
Autores principales: Chen, Ji-Yu, Cui, Jing-Jing, Yang, Xi-Ran, Li, Yan-Fang, Zhang, Yan-Hua, Chen, Jia-Ni, Lin, Jun-Yu, Zhao, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615339/
https://www.ncbi.nlm.nih.gov/pubmed/34964757
http://dx.doi.org/10.1097/MD.0000000000027890