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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease
BACKGROUND: Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. RESULTS: The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and gro...
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| Izdano u: | Mol Cytogenet |
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| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4322561/ https://ncbi.nlm.nih.gov/pubmed/25670966 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0107-x |
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