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Severe Neurological Phenotype in a Girl with Xp22.31 Triplication
The Xp22.31 duplication is a copy number variant which is challenging to categorize as pathogenic or benign. There is an increasing number of patients with the duplication and a neurobehavioral phenotype, but the duplication is almost always inherited from a parent, who in some cases is phenotypical...
Tallennettuna:
| Julkaisussa: | Mol Syndromol |
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| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
S. Karger AG
2017
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5498946/ https://ncbi.nlm.nih.gov/pubmed/28690489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000475795 |
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