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
Publicado en:Hum Genome Var
Main Authors: Shimojima, Keiko, Okamoto, Nobuhiko, Ohmura, Kayo, Nagase, Hiroaki, Yamamoto, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2018
Assuntos:
Data Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5874397/
https://ncbi.nlm.nih.gov/pubmed/29619234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.7
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