Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Alison M TreichelLana HamiehNeera R NathanMagdalena E TyburczyJi-An WangOyetewa OyerindeSorana RaiciulescuPatricia Julien-WilliamsAmanda M JonesVissaagan GopalakrishnanJoel MossDavid J KwiatkowskiThomas N DarlingPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The phenotype of mosaic TSC ranged from mild to indistinguishable from germline disease. Patients with mosaicism and asymmetric facial angiofibromas exhibited fewer findings, later onset, and lower VAF in the blood.