Foxd2 dysfunction is implicated in syndromic congenital anomalies of the kidney and urinary tract (cakut)

Korbinian Riedhammer, Thanh-Minh Nguyen,Can Kosukcu,Julia Calzada-Wack,Yong Li,Seha Saygili,Gwang-Jin Kim,Salim Caliskan,Anna Koettgen,Sebastian Arnold,Fatih Ozaltin,Miriam Schmidts,Julia Hoefele

medRxiv : the preprint server for health sciences（2023）

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摘要

In summary, our data implicate that dysfunction is a very rare cause of autosomal recessive syndromic CAKUT and suggest disturbances of the PAX2-WNT4 cell signaling axis contribute to this phenotype.

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关键词

syndromic congenital anomalies,urinary tract,congenital anomalies,kidney

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