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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Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Syndromol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2018
Témata:
Novel Insights from Clinical Practice
On-line přístup: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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