Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report...

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Detalles Bibliográficos
Autores principales: Jaffey, Jared A., Bullock, Garrett, Guo, Juyuan, Mhlanga-Mutangadura, Tendai, O’Brien, Dennis P., Coates, Joan R., Morrissey, Rochelle, Hutchison, Robert, Donnelly, Kevin S., Cohn, Leah A., Katz, Martin L., Johnson, Gary S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690363/
https://www.ncbi.nlm.nih.gov/pubmed/36421833
http://dx.doi.org/10.3390/genes13112158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690363/
https://www.ncbi.nlm.nih.gov/pubmed/36421833
http://dx.doi.org/10.3390/genes13112158

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