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

Conclusion The identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4 as a developmental gene for different organ systems.

http://jmg.bmj.com/cgi/content/short/60/6/587?rss=1

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Kolvenbach, C. M., Felger, T., Schierbaum, L., Thiffault, I., Pastinen, T., Szczepanska, M., Zaniew, M., Adamczyk, P., Bayat, A., Yilmaz, O., Lindenberg, T. T., Thiele, H., Hildebrandt, F., Hinderhofer, K., Moog, U., Hilger, A. C., Sullivan, B., Bartik, L Tags: Open access Developmental defects Source Type: research