Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case o...

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Detalles Bibliográficos
Autores principales: LIN, FU-JUN, LU, WEI, GALE, DANIEL, YAO, YAO, ZOU, REN, BIAN, FAN, JIANG, GENG-RU
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812390/
https://www.ncbi.nlm.nih.gov/pubmed/27073431
http://dx.doi.org/10.3892/etm.2016.3035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812390/
https://www.ncbi.nlm.nih.gov/pubmed/27073431
http://dx.doi.org/10.3892/etm.2016.3035

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