First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

1. Moreno-García, M.
2. Arteche-López, A.R.
3. Álvarez-Mora, M.I.
4. Palma Milla, C.
5. Quesada Espinosa, J.F.
6. Lezana Rosales, J.M.
7. Sánchez Calvín, M.T.
8. Gómez Manjón, I.
9. Gómez Rodríguez, M.J.
10. Mendez-Guerrero, A.
11. Villarejo-Galende, A.