Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.153C>G | p.His51Gln | Female | Not Rett synd. | 4393 | :Khajuria, R.:: | |
2 | c.153C>G | p.His51Gln | Female | not in affected daughter, but male monozygotic twins died at day 1 | Not Rett synd. | 4788 | Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488 |