Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

BACKGROUND: Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the “whole body” level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated. M...

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Autors principals: Wen, Jiadi, Lopes, Fátima, Soares, Gabriela, Farrell, Sandra A, Nelson, Cara, Qiao, Ying, Martell, Sally, Badukke, Chansonette, Bessa, Carlos, Ylstra, Bauke, Lewis, Suzanne, Isoherranen, Nina, Maciel, Patricia, Rajcan-Separovic, Evica
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710273/
https://ncbi.nlm.nih.gov/pubmed/23837398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-100
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