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Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation. This family gave birth to a boy with XLAS who developed hematuria and...

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Detalles Bibliográficos
Autores principales:	Liu, Nengqing, Wen, Xiaojun, Ou, Zhanhui, Fang, Xiaowu, Du, Jing, Lin, Xiufeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448762/ https://www.ncbi.nlm.nih.gov/pubmed/37635800 http://dx.doi.org/10.3389/fped.2023.1177019

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