| 概要 |
Brachycephaly, trichomegaly, and developmental delay (BTDD), also known as MacInnes syndrome, is a novel ribosomopathy. Mutations in RPS23 gene, which encodes a small ribosomal subunit, have been reported in patients with microcephaly, hearing loss, and overlapping dysmorphic features.
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| 著者 |
Alsop RJ, Soomro A, Zhang Y, Pieterse M, Fatona A, Dej K, Rheinstadter MC |
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| 著者 |
Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW |
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