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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders. To date, only larger-sized (8–21 Mb) duplications harboring CDKL5 have been described. We report seven females...
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| Vydáno v: | Eur J Hum Genet |
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| Hlavní autoři: | , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4463505/ https://ncbi.nlm.nih.gov/pubmed/25315662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.217 |
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