טוען...
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...
שמור ב:
| הוצא לאור ב: | Transl Sci Rare Dis |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
IOS Press
2018
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| נושאים: | |
| גישה מקוונת: | 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 |
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