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Volumn 54, Issue 3, 2013, Pages 198-201

Restrictive dermopathy: Report of two siblings

Author keywords

congenital anomaly; genetic analysis; restrictive dermopathy; ZMPSTE24 gene

Indexed keywords

HYDROCORTISONE ACETATE; METALLOPROTEINASE; PETROLATUM; ZINC;

EID: 84877875734     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2012.11.012     Document Type: Article
Times cited : (7)

References (11)
  • 1
    • 19544374472 scopus 로고    scopus 로고
    • Lamin A and ZMPSTE 24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
    • C. Navarro, A. De Sandre-Giovannoli, R. Bernadr, I. Boccaccio, A. Boyer, and D. Geneviève Lamin A and ZMPSTE 24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy Hum Mol Genet 13 2004 2493 2503
    • (2004) Hum Mol Genet , vol.13 , pp. 2493-2503
    • Navarro, C.1    De Sandre-Giovannoli, A.2    Bernadr, R.3    Boccaccio, I.4    Boyer, A.5    Geneviève, D.6
  • 2
    • 0020759551 scopus 로고
    • Letter to the editor: Autosomal recessive aplasia cutis congenita - Report of two affected sibs
    • V.H. Toriello, V.J. Higgins, and D.F. Waterman Letter to the editor: autosomal recessive aplasia cutis congenita - report of two affected sibs Am J Med Genet 15 1983 153 156
    • (1983) Am J Med Genet , vol.15 , pp. 153-156
    • Toriello, V.H.1    Higgins, V.J.2    Waterman, D.F.3
  • 4
    • 20444506041 scopus 로고    scopus 로고
    • Loss of ZMPSTE 24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
    • C. Navarro, J. Cadinanos, A. De Sandre-Giovannoli, R. Bernard, S. Courrier, and I. Boccaccio Loss of ZMPSTE 24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors Hum Mol Genet 14 2005 1503 1513
    • (2005) Hum Mol Genet , vol.14 , pp. 1503-1513
    • Navarro, C.1    Cadinanos, J.2    De Sandre-Giovannoli, A.3    Bernard, R.4    Courrier, S.5    Boccaccio, I.6
  • 5
    • 33744985605 scopus 로고    scopus 로고
    • A homogenous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS
    • J. Denecke, T. Brune, T. Feldhaus, H. Robenek, C. Kranz, and R.J. Auchus A homogenous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS Hum Mutat 6 2006 524 531
    • (2006) Hum Mutat , vol.6 , pp. 524-531
    • Denecke, J.1    Brune, T.2    Feldhaus, T.3    Robenek, H.4    Kranz, C.5    Auchus, R.J.6
  • 7
    • 0141537299 scopus 로고    scopus 로고
    • Restrictive dermopathy in two sisters
    • J.W. Hou, and C.F. Mai Restrictive dermopathy in two sisters Chang Gung Med J 26 2003 510 514
    • (2003) Chang Gung Med J , vol.26 , pp. 510-514
    • Hou, J.W.1    Mai, C.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.