Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1155_1200del46 | p.Leu386fs | Female | Mother is not carrier | Not Known | 429 | ::: |
2 | c.1155_1200del46 | p.Leu386fs | Female | Not Known | 2021 | ::: | |
3 | c.1155_1200del46 | p.Leu386fs | Female | Rett syndrome-not certain | 3293 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |