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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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.
Affiliation
  • Navarro CL; Inserm U491, Génétique Médicale et Développement, Faculté de Médecine de Marseille, Hôpital d'enfants de la Timone, Marseille, France.
Hum Mol Genet ; 13(20): 2493-503, 2004 Oct 15.
Article in En | MEDLINE | ID: mdl-15317753
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Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Cell Nucleus / Lamin Type A / Metalloproteases / Lipoproteins / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Newborn Language: En Journal: Hum Mol Genet Year: 2004 Document type: Article
Search on Google
Print
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Cell Nucleus / Lamin Type A / Metalloproteases / Lipoproteins / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Newborn Language: En Journal: Hum Mol Genet Year: 2004 Document type: Article