16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development.

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This study identifies the MAZ gene within the 16p11.2 region as a key regulator of kidney and urinary tract development, suggesting that families with 16p11.2 copy number changes should be aware of an increased risk for genitourinary birth defects and may want to discuss kidney and bladder screening with their child's doctor.