Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identifi...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Okamoto, Nobuhiko, Ohmura, Kayo, Nagase, Hiroaki, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397/
https://www.ncbi.nlm.nih.gov/pubmed/29619234
http://dx.doi.org/10.1038/hgv.2018.7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397/
https://www.ncbi.nlm.nih.gov/pubmed/29619234
http://dx.doi.org/10.1038/hgv.2018.7

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