Furtado, Larissa V <br/><br/>
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.  [electronic resource] 

 -  American journal of medical genetics. Part A  Nov 2010 
 - 2838-44 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33674  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Fatal Outcome<br/>Female<br/>Genetic Diseases, X-Linked--diagnostic imaging<br/>Humans<br/>Infant, Newborn<br/>Inheritance Patterns--genetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Phenotype<br/>Pregnancy<br/>Radiography<br/>Steroid Isomerases--genetics<br/>Sterols--biosynthesis<br/>Syndrome