Southgate, Laura <br/><br/>
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.  [electronic resource] 

 -  Circulation. Cardiovascular genetics  Aug 2015 
 - 572-581 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1942-3268 
<br/><br/><label>Standard No.: </label>10.1161/CIRCGENETICS.115.001086  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>Ectodermal Dysplasia--genetics<br/>Exome--genetics<br/>Family Health<br/>Female<br/>Gene Expression<br/>Genetic Predisposition to Disease--genetics<br/>Haploinsufficiency<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Limb Deformities, Congenital--genetics<br/>Male<br/>Middle Aged<br/>Models, Molecular<br/>Pedigree<br/>Protein Structure, Tertiary<br/>Receptor, Notch1--chemistry<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Scalp Dermatoses--congenital<br/>Sequence Analysis, DNA--methods<br/>Signal Transduction--genetics<br/>Young Adult