Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

We studied a man with distal hypospadias, partial anomalous pulmonary venous return, mild limb-length inequality and a balanced translocation involving chromosomes 9 and 13. To gain insight into the etiology of his birth defects, we mapped the translocation breakpoints by high-resolution comparative...

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Hauptverfasser: Bhoj, Elizabeth J, Ramos, Purita, Baker, Linda A, Cost, Nicholas, Nordenskjöld, Agneta, Elder, Frederick F, Bleyl, Steven B, Bowles, Neil E, Arrington, Cammon B, Delhomme, Brigitte, Vanhoutteghem, Amandine, Djian, Philippe, Zinn, Andrew R
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083624/
https://ncbi.nlm.nih.gov/pubmed/21368915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.245
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