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Bockenheimer disease is associated with a TEK variant

Bockenheimer disease is a venous malformation involving all tissues of an extremity. Patients have significant morbidity, and treatment is palliative. The purpose of this study was to identify the cause of Bockenheimer disease to develop pharmacotherapy for the condition. Paraffin-embedded tissue fr...

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Detalles Bibliográficos
Autores principales: Sudduth, Christopher L., Konczyk, Dennis J., Smits, Patrick J., Eng, Whitney, Al-Ibraheemi, Alyaa, Upton, Joseph, Greene, Arin K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751421/
https://www.ncbi.nlm.nih.gov/pubmed/34649969
http://dx.doi.org/10.1101/mcs.a006119