Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing

Introduction: Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with SALL1 (Spalt like Transcription Factor 1), is reported to be present in 1:238,000 individuals in the general population. TBS is characterized by the triad of anorectal malformations, dysplastic ea...

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Bibliographic Details
Main Authors: Quinn Stein, Anna Vostrizansky, Yelena Magay, Sara Jandeska, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg M. Hager, Akash Anand, Kathryn Curry, Michelle Bloom, Nour Al Haj Baddar, Hossein Tabriziani, Melisa Harrington, Sumit Punj
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Kidney International Reports
Subjects:
genetic testing
kidney disease
reverse phenotyping
SALL1
Townes-Brocks syndrome (TBS)
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924016176
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