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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Genome Var |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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