Article
High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.
American journal of medical genetics. Part A - 1 Sept 2026
George Andrew M, Duki Bamelak T, Katz Zoe S, Viswanathan Aravind, MacFarland Suzanne P, Hathaway Evan R, Monahan Caitlin, Morris John, Trout Kelly L, Krantz Shari M, Ganguly Arupa, Kalish Jennifer M
Abstract excerpt
WAGR spectrum disorder (WAGRSD) is an ultra-rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends well beyond this tetrad. To improve diagnostic resolution, we developed...
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