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Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a...
Sparad:
| I publikationen: | Am J Med Genet A |
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| Huvudupphovsmän: | , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2018
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6679916/ https://ncbi.nlm.nih.gov/pubmed/29341460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38524 |
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