Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbid...

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Autores:
Fajardo-Jiménez, María José
Tejada-Moreno, Johanna A.
Mejía-García, Alejandro
Villegas-Lanau, Andrés
Zapata Builes, Wildeman
Restrepo, Jorge E.
Cuartas, Gina P.
Hernández López, Juan Carlos
Tipo de recurso:
Article of investigation
Fecha de publicación:
2022
Institución:
Universidad Cooperativa de Colombia
Repositorio:
Repositorio UCC
Idioma:
OAI Identifier:
oai:repository.ucc.edu.co:20.500.12494/52306
Acceso en línea:
https://doi.org/10.3390/genes13112118
https://hdl.handle.net/20.500.12494/52306
Palabra clave:
Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report
Ehlers-Danlos syndromes
genetic diseases; collagen
neuropsychological assessment
case report
Rights
openAccess
License
http://purl.org/coar/access_right/c_abf2