Article
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Orphanet journal of rare diseases - 10 Jul 2013
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
Abstract excerpt
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. METHOD AND RESULTS: We report an example of a functional analysis of two genes from a new, overlapping microdeletion...
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