1 |
c.-156C>T |
p.(=) |
Female |
de novo |
Rett syndrome-classical |
3864 |
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform:Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.:Neurogenetics: 19034540 |
2 |
c.-156C>T |
p.(=) |
Female |
de novo |
Rett syndrome-not certain |
3867 |
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833 |