Škorić-Milosavljević, Doris <br/><br/>
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.  [electronic resource] 

 -  American journal of medical genetics. Part A  09 2019 
 - 1836-1845 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61294  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>GATA6 Transcription Factor--genetics<br/>Gallbladder--physiopathology<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Heart--diagnostic imaging<br/>Heart Defects, Congenital--diagnostic imaging<br/>Hernias, Diaphragmatic, Congenital--diagnostic imaging<br/>Heterozygote<br/>Humans<br/>Loss of Function Mutation--genetics<br/>Male<br/>Mutation<br/>Pancreas--diagnostic imaging<br/>Phenotype<br/>Truncus Arteriosus, Persistent--diagnostic imaging<br/>Exome Sequencing