A de novo GABPA Variant in a Patient with Multifocal Cutaneous Vascular Tumors of an Unclassified Entity
Annegret Holm, Pascal Brouillard, Nagi Mahammadzade, Mehrnaz Mehrabipour, Anna Shimbulu, Dionyssios Benetatos, Nisha Limaye, Ahmad Alomari, Leonard Ira Zon, Whitney Eng, Harry P. Kozakewich, Friedrich Kapp, Miikka Vikkula, John Butler Mulliken, Joyce E. Bischoff
The paper identifies a novel de novo GABPA variant in a patient with unclassified vascular tumors, linking it to disrupted vascular development through structural and functional analyses.
bioRxiv · Sep 25, 2026 · PreprintGenetics