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Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype
Rett syndrome (RTT), a neurodevelopmental disorder that predominantly affects females, is primarily caused by variants in MECP2. Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes that may overlap with RTT. Individuals with phenot...
Autores principales: | Williamson, Sarah L, Ellaway, Carolyn J, Peters, Greg B, Pelka, Gregory J, Tam, Patrick PL, Christodoulou, John |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538211/ https://www.ncbi.nlm.nih.gov/pubmed/25424712 http://dx.doi.org/10.1038/ejhg.2014.249 |
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