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  1. Article

    Open Access

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlap** phe...

    Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak… in npj Genomic Medicine (2024)

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  2. Article

    Open Access

    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identif...

    Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld… in Communications Biology (2022)

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