https://16pfoundation.org/resource/16p11-2-transcription-factor-maz-is-a-dosage-sensitive-regulator-of-genitourinary-development/
16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development. -...
kidney malformation, urinary tract defect, CAKUT, congenital anomalies of the kidney, bladder development, WNT signaling, haploinsufficiency, copy number...
https://sjelden.no/diagnose/261204/
16p11.2p12.2 mikroduplikasjonssyndrom - Sjelden
sjelden