Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.

Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with A retrospective analysis of the genetic data from a 385-gene panel identified cases with a pathogenic (P) or likely pathogenic (LP) variant in Of 35,044 samples, P or LP variants in Traditionally, a molecular diagnosis was ascertained primarily in individuals presenting with cardinal features of TBS; therefore, individuals with mild or atypical presentations were often overlooked clinically. Our findings reveal that

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© 2024 International Society of Nephrology. Published by Elsevier Inc.