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...

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Detalles Bibliográficos
Autores principales: Okuneva, E. G., Kozina, A. A., Baryshnikova, N. V., Krasnenko, A. Yu, Tsukanov, K. Yu, Klimchuk, O. I., Surkova, E. I., Ilinsky, V. V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357400/
https://www.ncbi.nlm.nih.gov/pubmed/30704477
http://dx.doi.org/10.1186/s12895-019-0084-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357400/
https://www.ncbi.nlm.nih.gov/pubmed/30704477
http://dx.doi.org/10.1186/s12895-019-0084-6

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