Acosta-Fernández, Elizabeth <br/><br/>
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.  [electronic resource] 

 -  American journal of medical genetics. Part A  05 2020 
 - 1223-1229 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.61506  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Agenesis of Corpus Callosum--diagnostic imaging<br/>Child<br/>Child, Preschool<br/>Craniofacial Abnormalities--diagnostic imaging<br/>Ephrin-B1--genetics<br/>Exons--genetics<br/>Female<br/>Hernias, Diaphragmatic, Congenital--diagnostic imaging<br/>Heterozygote<br/>Humans<br/>Infant<br/>Male<br/>Mutation--genetics<br/>Skull--diagnostic imaging