Associated Papers
Cutis laxa in hereditary gelsolin amyloidosis.
Kiuru-Enari S et al.
The British Journal of Dermatology, 2005
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA et al.
American Journal of Medical Genetics. Part A, 2003
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
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