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A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
BACKGROUND: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper tr...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Dermatol |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6357400/ https://ncbi.nlm.nih.gov/pubmed/30704477 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12895-019-0084-6 |
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