Accogli, Andrea <br/><br/>
A novel Xp22.13 microdeletion in Nance-Horan syndrome.  [electronic resource] 

 -  Birth defects research  Jul 2017 
 - 866-868 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2472-1727 
<br/><br/><label>Standard No.: </label>10.1002/bdr2.1032  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cataract--congenital<br/>Chromosome Deletion<br/>Chromosomes, Human, X--genetics<br/>Codon, Nonsense<br/>Comparative Genomic Hybridization--methods<br/>Exons--genetics<br/>Genes, X-Linked--genetics<br/>Genetic Diseases, X-Linked--genetics<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Intercellular Signaling Peptides and Proteins<br/>Male<br/>Membrane Proteins<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Polycomb-Group Proteins--genetics<br/>Proteins--genetics<br/>Sex Chromosome Aberrations--embryology<br/>Syndrome<br/>Tooth Abnormalities--genetics