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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...

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Bibliografiske detaljer
Udgivet i:Transl Sci Rare Dis
Main Authors: Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.
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
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