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Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report

RATIONALE: Vascular Ehlers–Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin...

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Detalles Bibliográficos
Autores principales: Park, Min A., Shin, So Youn, Kim, Young Jin, Park, Myung Jae, Lee, Seung Hyeun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708996/
https://www.ncbi.nlm.nih.gov/pubmed/29381997
http://dx.doi.org/10.1097/MD.0000000000008853