1. Biology Dictionary
  2. Heart and brain malformation syndrome

Heart and brain malformation syndrome

Definition:

Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential component of nonsense-mediated decay (NMD) machinery, cause this disease.

Biomedical Dictionary

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