Jones, Gabriela E <br/><br/>
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2016 
 - 754-9 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.37511  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Brain--pathology<br/>Cell Adhesion Molecules--chemistry<br/>Comparative Genomic Hybridization<br/>Facies<br/>Female<br/>Heart Defects, Congenital--diagnosis<br/>Heterozygote<br/>Holoprosencephaly--diagnosis<br/>Humans<br/>Limb Deformities, Congenital--diagnosis<br/>Magnetic Resonance Imaging<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Phenotype<br/>Protein Conformation<br/>Tumor Suppressor Proteins--chemistry<br/>Young Adult