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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...
Autores principales: | Wu, Jing, Zhang, Jun, Xiao, Tang-Li, He, Ting |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2023
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Materias: | |
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 |
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