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A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum
The Xp11.22–p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small du...
Tallennettuna:
| Julkaisussa: | J Pediatr Genet |
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| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Georg Thieme Verlag KG
2018
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| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5916805/ https://ncbi.nlm.nih.gov/pubmed/29707408 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612598 |
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