Speksnijder, Leonie <br/><br/>
A de novo GLI3 mutation in a patient with acrocallosal syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2013 
 - 1394-400 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.35874  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Acrocallosal Syndrome--diagnosis<br/>Acrocephalosyndactylia--diagnosis<br/>Amino Acid Substitution<br/>Craniosynostoses--diagnosis<br/>Diagnosis, Differential<br/>Female<br/>Genetic Association Studies<br/>Heterozygote<br/>Humans<br/>Infant<br/>Kruppel-Like Transcription Factors--genetics<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Pregnancy<br/>Prenatal Diagnosis<br/>Zinc Finger Protein Gli3