| 概要 |
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.
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| 著者 |
Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS |
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