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Article

Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Sudduth Christopher L, Konczyk Dennis J, Smits Patrick J, Eng Whitney, Al-Ibraheemi Alyaa, Upton Joseph, Greene Arin K

Abstract excerpt

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 from nine individuals with Bockenheimer disease obtained during a clinically indicated operation underwent DNA...

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Identifiers

PMID: 34649969
DOI: 10.1101/mcs.a006119
PMCID: PMC8751421

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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