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5p14 deletion associated with microcephaly and seizures
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734514/ https://ncbi.nlm.nih.gov/pubmed/10662813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.2.125 |
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