| 概要 |
Rabin-Pappas syndrome (RAPAS) is a novel syndrome associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2. The phenotype of this syndrome includes microcephaly, profound intellectual disability, congenital anomalies affecting several organ systems, and similar facial features. SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions.
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| 著者 |
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Belanger SA, Lohner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J |
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