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NKX2E

MIM.600584 5q34

Sunday 19 June 2005

NKX2-5 is one of the key transcription factors required for the differentiation of mesodermal progenitor cells.

Pathology

- germline mutations in atrial septal defect secundum and atrioventricular conduction defects (MIM.108900)

- somatic mutations in patients with complex cardiac malformations (15342699, 15161646)