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Michael Fox
Michael Fox

Public Documents 1
Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF V...
Michael Fox
Sumukh Kumar

Michael Fox

and 11 more

March 22, 2025
Complex lymphatic anomalies are a morbid group of overlapping disorders associated with lymphatic malformations. Advancement in genetic testing has led to greater understanding of the etiologies of these diseases and other vascular malformations. The somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of head and neck lymphatic malformations and attributed to more complex lymphatic anomalies. Here, we define the phenotype of complex lymphatic anomalies attributed to the somatic BRAF p.V600E variant in six individuals. These cases further highlight the phenotypic heterogeneity associated with this variant and suggest the value of molecular targeted pharmacotherapy.

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