scholarly journals Discovery of a potentially deleterious variant inTMEM87Bin a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

2016 ◽  
Vol 2 (3) ◽  
pp. a000844 ◽  
Author(s):  
Hung-Chun Yu ◽  
Curtis R. Coughlin ◽  
Elizabeth A. Geiger ◽  
Blake J. Salvador ◽  
Ellen R. Elias ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Restrictive Cardiomyopathy ◽  
Recessive Condition ◽  
Deleterious Variant
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