Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors-Reference-Cited by-同舟云学术

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Published:2005-04-20 Issue:11 Volume:14 Page:1503-1513
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Navarro Claire L.,Cadiñanos Juan,Sandre-Giovannoli Annachiara De,Bernard Rafaëlle,Courrier Sébastien,Boccaccio Irène,Boyer Amandine,Kleijer Wim J.,Wagner Anja,Giuliano Fabienne,Beemer Frits A.,Freije Jose M.,Cau Pierre,Hennekam Raoul C.M.,López-Otín Carlos,Badens Catherine,Lévy Nicolas

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/11/1503/17241362/ddi159.pdf

Reference33 articles.

1. Witt, D.R., Hayden, M.R., Holbrook, K.A., Dale, B.A., Baldwin, V.J. and Taylor, G.P. (1986) Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am. J. Med. Genet., 24, 631–648.

2. Verloes, A., Mulliez, N., Gonzales, M., Laloux, F., Hermanns-Le, T., Pierard, G.E. and Koulischer, L. (1992) Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasia: three new cases and review of the literature. Am. J. Med. Genet., 43, 539–547.

3. Lenz, W. and Meschede, D. (1993) Historical note on restrictive dermopathy and report of two new cases. Am. J. Med. Genet., 47, 1235–1237.

4. Mau, U., Kendziorra, H., Kaiser, P. and Enders, H. (1997) Restrictive dermopathy: report and review. Am. J. Med. Genet., 71, 179–185.

5. De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C.L., Munnich, A., Le Merrer, M. et al. (2003) Lamin A truncation in Hutchinson–Gilford progeria. Science, 300, 2055.

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