Genetic disorders of the elastic fiber system

Matrix Biology

Volumn 19, Issue 6, 2000, Pages 471-480

  Milewicz, Dianna M ^a   Urbán, Zsolt ^b   Boyd, Charles ^b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF HAWAII   (United States)

Author keywords

Congenital contractual arachnodactyly; Cutis laxa; Elastin; Fibrillin; Marfan syndrome; Supravalvular aortic stenosis

Indexed keywords

ELASTIN; FIBRILLIN;

AORTA SUPRAVALVULAR STENOSIS; ARACHNODACTYLY; CUTIS LAXA; ECTOPIA LENTIS; ELASTIC FIBER; EXTRACELLULAR MATRIX; FIBER; GENETIC DISORDER; HUMAN; MARFAN SYNDROME; MUTATION; POINT MUTATION; PRIORITY JOURNAL; REVIEW; WILLIAMS BEUREN SYNDROME;

EID: 0033783405     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(00)00099-8     Document Type: Short Survey

References (47)

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3. Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly
4. A second local for Marfan syndrome maps to chromosome 3p24.2-p25
5. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
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10. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7
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40. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype
41. Molecular and clinical correlation study of Williams-Beuren syndrome: no evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
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