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.Me...

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Publicado en:	Orphanet Journal of Rare Diseases Vol. 8; no. 1; pp. 100 - 101
Autores principales:	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
Formato:	research Journal Article
Publicado:	BioMed Central 2013
Acceso en línea:	Ver este registro en EBSCOhost