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X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Kolvenbach, Caroline; Felger, Tim; Schierbaum, Luca; Thiffault, Isabelle; Pastinen, Tomi; Szczepańska, Maria; Zaniew, Marcin; Adamczyk, Piotr; Bayat, Allan; Yilmaz, Öznur; Lindenberg, Tobias; Thiele, Holger; Hildebrandt, Friedhelm; Hinderhofer, Katrin; Moog, Ute; Hilger, Alina; Sullivan, Bonnie; Bartik, Lauren; Gnyś, Piotr; Grote, Phillip; Odermatt, Benjamin; Reutter, Heiko; Dworschak, Gabriel (2022-11-15)

Background: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 ...

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X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems