Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely can...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Miranda-Fernández, Marta-Catalina, Ramírez-Oyaga, Silvia, Restrepo, Carlos M., Huertas-Quiñones, Victor-Manuel, Barrera-Castañeda, Magally, Quero, Rossi, Hernández-Toro, Camilo-José, Tamar Silva, Claudia, Laissue, Paul, Cabrera, Rodrigo
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6006643/
https://ncbi.nlm.nih.gov/pubmed/29928183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000488820
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