De Novo Deletion of Chromosome 20q13.33 in a Patient with Tracheo-esophageal Fistula, Cardiac Defects and Genitourinary Anomalies Implicates GTPBP5 as a Candidate Gene

BACKGROUND: Tracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood. CASE REPORT: We identified a patien...

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Detalhes bibliográficos
Main Authors: Solomon, Benjamin D, Pineda–Alvarez, Daniel E, Hadley, Donald W, Keaton, Amelia A, Agochukwu, Nneamaka B, Raam, Manu S, Carlson–Donohoe, Hannah E, Kamat, Aparna, Chandrasekharappa, Settara C
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3193386/
https://ncbi.nlm.nih.gov/pubmed/21608104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.20821
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