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martin de bortoli[Author]
(1 results)?
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.
JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095.
JCI Insight. 2023.
PMID: 37937645
Free PMC article.
Clinical Trial.
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E, Vikkula M.
De Bortoli M, et al.
Am J Med Genet A. 2024 Jun;194(6):e63551. doi: 10.1002/ajmg.a.63551. Epub 2024 Feb 6.
Am J Med Genet A. 2024.
PMID: 38321651
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Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).
De Bortoli M, Queisser A, Pham VC, Dompmartin A, Helaers R, Boutry S, Claus C, De Roo AK, Hammer F, Brouillard P, Abdelilah-Seyfried S, Boon LM, Vikkula M.
De Bortoli M, et al.
J Invest Dermatol. 2024 Feb 29:S0022-202X(24)00164-7. doi: 10.1016/j.jid.2024.01.033. Online ahead of print.
J Invest Dermatol. 2024.
PMID: 38431221
Free article.
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