ロスムンド・トムソン症候群
“Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome” (英語). Nature Genetics 22 (1): 82–84. doi:10.1038/8788. ISSN 1546-1718. https://www.nature.com/articles/ng0599_82.
↑ Ajeawung, Norbert F.; Nguyen, Thi Tuyet Mai; Lu, Linchao; Kucharski, Thomas J.; Rousseau, Justine; Molidperee, Sirinart; Atienza, Joshua; Gamache, Isabel et al. (2019-09-05). “Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1” (English). The American Journal of Human Genetics 105 (3): 625–630. doi:10.1016/j.ajhg.2019.06.011. ISSN 0002-9297. PMC PMC6731352. PMID 31303264. https://www.cell.com/ajhg/abstract/S0002-9297(19)30236-8.
↑ 金子英雄 (2021). “ロスムンド・トムソン症候群(早老症研究の最前線)”. 日本老年医学会雑誌 58 (3): 413–416. doi:10.3143/geriatrics.58.413. https://www.jstage.jst.go.jp/article/geriatrics/58/3/58_58.413/_article/-char/ja/.
↑ Rothmund, August (1868-02-01). “Ueber Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration” (ドイツ語). Archiv für Ophthalmologie 14 (1): 159–182. doi:10.1007/BF02720945. ISSN 1435-702X. https://doi.org/10.1007/BF02720945.
↑ Thomson, M. Sydney (1936-05). “Poikiloderma Congexitale”. British Journal of Dermatology 48 (5): 221–234. doi:10.1111/j.1365-2133.1936.tb10332.x. ISSN 0007-0963. https://doi.org/10.1111/j.1365-2133.1936.tb10332.x.
↑ Kitao, Saori; Shimamoto, Akira; Goto, Makoto; Miller, Robert W.; Smithson, William A.; Lindor, Noralane M.; Furuichi, Yasuhiro (1999-05).