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. Among authors: renders a.
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