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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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Detalhes bibliográficos
Main Authors: Zayed, Hatem, Chao, Ryan, Moshrefi, Ali, LopezJimenez, Nelson, Delaney, Allen, Chen, Justin, Shaw, Gary M., Slavotinek, Anne M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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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