Loading...
When Rett syndrome is due to genes other than MECP2
Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in MECP2, the gene predominantly associated with this disorder, were provided additional genetic testing. This testing revealed pathogenic mutations in a gene not previously associated with RTT, CTNNB1, mutati...
Na minha lista:
| Udgivet i: | Transl Sci Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
IOS Press
2018
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5900556/ https://ncbi.nlm.nih.gov/pubmed/29682453 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-180021 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|