An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Hala Mégarbané, Jobard Florence, Jörn Oliver Sass, Susanne Schwonbeck, Mario Foglio, Rafael de Cid, Susan Cure, Safa Saker, André Mégarbané, Judith Fischer |
| Parent Title (English): | The Journal of Investigative Dermatology |
| Volume: | 129 |
| Issue: | 7 |
| First Page: | 1650 |
| Last Page: | 1655 |
| ISSN: | 0022-202X |
| DOI: | https://doi.org/10.1038/jid.2008.450 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/19194475 |
| Publisher: | Nature Publishing Group |
| Date of first publication: | 2009/02/05 |
| Departments, institutes and facilities: | Institut für funktionale Gen-Analytik (IFGA) |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2018/08/18 |
