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Researchers discover first gene linked to missing spleen in newborns
Date:5/3/2012

ys Dr. Selleri. "It demonstrates how genetic pathways identified in mouse models can be exploited to further understand the pathogenesis of human disease towards a better prenatal diagnosis."

She says that other patients and families with this disorder need to be studied in order to develop a comprehensive prenatal test. "It may be that there are other mutations that are acting in concert or independently of Nkx2.5 in other asplenic patients," Dr. Selleri says. Those studies in human patients are currently underway in the Rockefeller University lab, while at the Weill Cornell lab additional studies on mouse models are ongoing.


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Contact: Lauren Woods
law2014@med.cornell.edu
212-821-0560
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
Source:Eurekalert

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