Rodriguez, Jayson D <br/><br/>
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2010 
 - 713-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33208  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, X--genetics<br/>Coenzyme A Ligases--genetics<br/>Collagen Type IV--genetics<br/>DNA Mutational Analysis<br/>Facies<br/>Female<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Language Development Disorders--genetics<br/>Male<br/>X-Linked Intellectual Disability--genetics<br/>Nephritis, Hereditary--genetics<br/>Pedigree<br/>Phenotype<br/>Long-Chain-Fatty-Acid-CoA Ligase