Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Alankarage, Dimuthu, Szot, Justin O, Pachter, Nick, Slavotinek, Anne, Selleri, Licia, Shieh, Joseph T, Winlaw, David, Giannoulatou, Eleni, Chapman, Gavin, Dunwoodie, Sally L
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7206850/
https://ncbi.nlm.nih.gov/pubmed/31625560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz231
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