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The HAND1 gene encodes a basic helix–loop–helix (bHLH) transcription factor which plays an essential role in the development of heart. Mutations in HAND1 have been identified in congenital heart disease (CHD) patients with hypoplastic hearts and septal defects. The spectrum of CHD relating to HAND1 mutations needs further study.We screened HAND1 coding regions for mutations in 498 Chinese patients...