Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy-Reference-Cited by-同舟云学术

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Published:2004-08-18 Issue:20 Volume:13 Page:2493-2503
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Navarro Claire L.,De Sandre-Giovannoli Annachiara,Bernard Rafaëlle,Boccaccio Irène,Boyer Amandine,Geneviève David,Hadj-Rabia Smail,Gaudy-Marqueste Caroline,Smitt Henk Sillevis,Vabres Pierre,Faivre Laurence,Verloes Alain,Van Essen Ton,Flori Elisabeth,Hennekam Raoul,Beemer Frits A.,Laurent Nicole,Le Merrer Martine,Cau Pierre,Lévy Nicolas

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/13/20/2493/1592007/ddh265.pdf

Reference43 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 dysplasias: 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. Pierard-Franchimont, C., Pierard, G.E., Hermanns-Le, T., Estrada, J.A., Verloes, A. and Mulliez, N. (1992) Dermatopathological aspects of restrictive dermopathy. J. Pathol., 167, 223–228.

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