Τρίτη 20 Φεβρουαρίου 2018

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

Genitourinary (GU) birth defects are among the most common yet least studied congenital malformations. Congenital anomalies of the kidney and urinary tract (CAKUTs) have high morbidity and mortality rates and account for ∼30% of structural birth defects. Copy number variation (CNV) mapping revealed that 16p11.2 is a hotspot for GU...

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