蜘蛛樣指
蜘蛛樣指(英語:)是一種手指和腳趾異常細長的先天性或後天性疾病,而患者的拇指傾向手掌[1]。目前已經發現小纖維蛋白-1(fibrillin-1、FBN1)和小纖維蛋白-2(FBN2)的突變,與蜘蛛樣指相關。此外,蜘蛛樣指被指可能與高胱氨酸尿症、先天性攣縮細長指、Loeys-Dietz綜合徵、馬凡氏症候群[2]和埃勒斯-當洛二氏症候群[3] 有關。
參考資料
- Viljoen, D. . Journal of medical genetics. 1994-08, 31 (8): 640–3 [2020-03-08]. PMID 7815423. doi:10.1136/jmg.31.8.640.
- Buntinx, IM; Willems, PJ; Spitaels, SE; Van Reempst, PJ; De Paepe, AM; Dumon, JE. . Journal of medical genetics. 1991-04, 28 (4): 267–73 [2020-03-08]. PMID 1856834. doi:10.1136/jmg.28.4.267.
- Keer, Rosemary; Grahame, Rodney. . 2003-06-27. ISBN 978-0-7506-5390-9.
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