Bouman, Arjan <br/><br/>
Homozygous DMRT2 variant associates with severe rib malformations in a newborn.  [electronic resource] 

 -  American journal of medical genetics. Part A  05 2018 
 - 1216-1221 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.38668  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Alleles<br/>DNA-Binding Proteins--genetics<br/>Fatal Outcome<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Hernia, Diaphragmatic--diagnosis<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Phenotype<br/>Radiography<br/>Ribs--abnormalities<br/>Spine--abnormalities<br/>Tomography, Spiral Computed<br/>Transcription Factors--genetics<br/>Exome Sequencing