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...

Descripción completa

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

Internet

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

Ejemplares similares