Jones, Gabriela E <br/><br/>
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.  [electronic resource] 

 -  Ophthalmic genetics  09 2016 
 - 352-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1744-5094 
<br/><br/><label>Standard No.: </label>10.3109/13816810.2015.1059463  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Chromosome Aberrations<br/>Chromosomes, Human, Pair 14--genetics<br/>Female<br/>Humans<br/>Intellectual Disability--genetics<br/>Limb Deformities, Congenital--genetics<br/>Microphthalmos--genetics<br/>Nervous System Malformations--genetics<br/>Oligonucleotide Array Sequence Analysis<br/>Otx Transcription Factors--genetics<br/>Pedigree<br/>Sequence Deletion<br/>Urogenital Abnormalities--genetics