Exclusion of the elastin gene in the pathogenesis of Costello syndrome
- 22 January 2001
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 98 (3), 286-287
- https://doi.org/10.1002/1096-8628(20010122)98:3<286::aid-ajmg1090>3.0.co;2-x
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding ProteinAmerican Journal of Human Genetics, 2000
- An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxaHuman Molecular Genetics, 1998
- Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosisHuman Molecular Genetics, 1997
- Elastic fiber degeneration in Costello syndromeAmerican Journal of Medical Genetics, 1996
- Costello syndrome: natural history and differential diagnosis of cutis laxa.Journal of Medical Genetics, 1994