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A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of heterogeneous, rare diseases affecting the connective tissues. The main clinical signs of EDS are skin hyperextensibility, joint hypermobility, and skin fragility. Currently, the classification of EDS in humans distinguishes 13 clinical subtypes associated...

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Detalles Bibliográficos
Autores principales: Kiener, Sarah, Chevallier, Lucie, Jagannathan, Vidhya, Briand, Amaury, Cochet-Faivre, Noëlle, Reyes-Gomez, Edouard, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9142074/
https://www.ncbi.nlm.nih.gov/pubmed/35627319
http://dx.doi.org/10.3390/genes13050934