Narrowing Critical Regions and Determining Penetrance for Selected 18q- Phenotypes

One of our primary goals is to help families who have a child with an 18q deletion anticipate medical issues in order to optimize their child’s medical care. To this end we have narrowed the critical regions for four phenotypic features and determined the penetrance for each of those phenotypes when...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Cody, Jannine D., Heard, Patricia L., Crandall, AnaLisa C., Carter, Erika M., Li, John, Hardies, L. Jean, Lancaster, Jack, Perry, Brian, Stratton, Robert F., Sebold, Courtney, Schaub, Rebecca L., Soileau, Bridgette, Hill, Annice, Hasi, Minire, Fox, Peter T., Hale, Daniel E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5325704/
https://ncbi.nlm.nih.gov/pubmed/19533771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32899
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