Restrictive dermopathy-a lethal congenital laminopathy. Case report and review of the literature

European Journal of Pediatrics

Volumn 168, Issue 8, 2009, Pages 1007-1012

  Morais, Paulo ^a,b   Magina, Sofia ^a,b   Ribeiro, Maria Do Céu ^a   Rodrigues, Manuela ^a   Lopes, José Manuel ^a,b,c   Thanh, Huong Le Thi ^d   Wehnert, Manfred ^d   Guimarães, Hercília ^a,b  

^a HOSPITAL DE SÃO JOÃO   (Portugal)

^b University of Porto   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

Autosomal recessive; Laminopathy; LMNA; Restrictive dermopaphy; ZMPSTE24

Indexed keywords

GENTAMICIN; METRONIDAZOLE; VANCOMYCIN;

ARTICLE; AUTOPSY; BLOOD ANALYSIS; BRAIN EDEMA; BRAIN RADIOGRAPHY; CASE REPORT; ELECTRON MICROSCOPY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; JOINT CONTRACTURE; LAMINOPATHY; NEWBORN; PHYSICAL EXAMINATION; PREMATURITY; PRIORITY JOURNAL; RADIODIAGNOSIS; RESTRICTIVE DERMOPATHY; SKIN BIOPSY; SKIN DISEASE; ZMPSTE24 GENE;

ABNORMALITIES, MULTIPLE; ELASTIC TISSUE; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; LAMIN TYPE A; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; SKIN DISEASES, GENETIC;

EID: 67449131556     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0868-x     Document Type: Article

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