Stephen, Joshi <br/><br/>
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.  [electronic resource] 

 -  American journal of medical genetics. Part A  12 2018 
 - 2930-2933 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.40658  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Coloboma--diagnosis<br/>Cornea--abnormalities<br/>DNA Mutational Analysis<br/>Facies<br/>Humans<br/>Membrane Proteins--genetics<br/>Microphthalmos--diagnosis<br/>Motor Disorders--diagnosis<br/>Mutation<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Siblings<br/>Syndrome