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

Autor: Chansonette Badukke, Carlos Bessa, Gabriela Soares, Nina Isoherranen, Cara R. Nelson, Sandra A. Farrell, Sally Martell, Fátima Lopes, Patrícia Maciel, Bauke Ylstra, Suzanne M E Lewis, Evica Rajcan-Separovic, Ying Qiao, Jiadi Wen

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Orphanet Journal of Rare Diseases, 8:100. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
Orphanet Journal of Rare Diseases
Wen, J, Lopes, F, Soares, G, Farrell, S A, Nelson, C, Qiao, Y, Martell, S, Badukke, C, Bessa, C, Ylstra, B, Lewis, S, Isoherranen, N, Maciel, P & Rajcan-Separovic, E 2013, ' 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, vol. 8, 100 . https://doi.org/10.1186/1750-1172-8-100

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a305ef41759704654626fc068a70b2
https://hdl.handle.net/10400.16/1694