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A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia – evaluation of DSEL as a candidate gene for the diaphragmatic defect
Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late-presenting, right-sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence-in-situ hybridizati...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2922899/ https://ncbi.nlm.nih.gov/pubmed/20358601 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33341 |
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