New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV

Journal of Medical Genetics

Volumn 35, Issue 6, 1998, Pages 513-518

  Jukkola, Arja ^a   Kauppila, Saila ^a   Risteli, Leila ^a   Vuopala, Katri ^a   Risteli, Juha ^a   Leisti, Jaakko ^a   Pajunen, Leila ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b Tahkokangas Hospital   (Finland)

Author keywords

De Barsy syndrome; Ehlers Danlos IV; Geroderma osteodysplastica; Types I and III collagen defect

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; MESSENGER RNA; PROCOLLAGEN;

AORTA VALVE DISEASE; ARTICLE; BIOCHEMISTRY; BONE DYSPLASIA; CASE REPORT; CATARACT; CLINICAL FEATURE; COLLAGEN DEFECT; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; FIBROBLAST CULTURE; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; JOINT HYPERMOBILITY; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; RNA STRUCTURE; SKIN DISEASE; SKIN FIBROBLAST; VERTEBRAL CANAL STENOSIS;

EID: 0031744914     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.6.513     Document Type: Article

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