| 概要 |
Fliedner-Zweier syndrome (FZS) is a novel autosomal dominant neurodevelopmental disorder characterized by intellectual disability, seizures, behavioral abnormalities, facial dysmorphisms, and skeletal anomalies. It has been reported that mutations in SCAF4 cause this syndrome. SCAF4 interacts with the C-terminal domain of the largest subunit of RNA polymerase II, and is required for correct polyA site selection and mRNA termination.
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| 著者 |
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C |
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| 著者 |
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C |
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