Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report

BACKGROUND: Townes–Brocks syndrome (TBS) is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus, dysplastic ears, and thumb malformations. Heterozygous variants of SALL1 are responsible for this syndrome. Renal structural abnormalities and functional impairments a...

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Detalles Bibliográficos
Autores principales: Wu, Jing, Zhang, Jun, Xiao, Tang-Li, He, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450384/
https://www.ncbi.nlm.nih.gov/pubmed/37637690
http://dx.doi.org/10.12998/wjcc.v11.i23.5567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450384/
https://www.ncbi.nlm.nih.gov/pubmed/37637690
http://dx.doi.org/10.12998/wjcc.v11.i23.5567

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