Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0599_82.pdf
Reference19 articles.
1. Rothmund, A. Uber cataracten in verbindung mit einer eigenthumlichen hautdegeneration. Arch. Klin. Exp. Ophthal. 4, 159– 182 (1868).
2. Thomson, M.S. Poikiloderma congenitale. Br. J. Dermatol. 48, 221–234 (1936).
3. Vennos, E.M., Collins, M. & James, W.D. Rothmund-Thomson syndrome: review of the world literature. J. Am. Acad. Dermatol. 27, 750– 762 (1992).
4. Vennos, E.M. & James, W.D. Rothmund-Thomson syndrome. Dermatol. Clin. 13, 143–150 (1995).
5. Ying, K.L., Oizumi, J. & Curry, C.J.R. Rothmund-Thomson syndrome associated with trisomy-8 mosaicism. J. Med. Genet. 27, 258– 260 (1990).
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