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...

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Detalles Bibliográficos
Autores principales: Williamson, Sarah L, Ellaway, Carolyn J, Peters, Greg B, Pelka, Gregory J, Tam, Patrick PL, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
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

Internet

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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