Lindgren, Amelia M <br/><br/>
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.  [electronic resource] 

 -  Human genetics  May 2013 
 - 537-52 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>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-013-1263-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Animals<br/>Branchial Region--enzymology<br/>Cell Line<br/>Chromosomes, Human, Pair 5--genetics<br/>Cleft Palate--genetics<br/>Comparative Genomic Hybridization<br/>DNA Copy Number Variations<br/>Female<br/>Gene Knockdown Techniques<br/>Haploinsufficiency--genetics<br/>Histone Demethylases--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Karyotyping<br/>Microcephaly--genetics<br/>Muscle Hypotonia--genetics<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>Psychomotor Disorders--genetics<br/>Seizures--genetics<br/>Translocation, Genetic<br/>X Chromosome--genetics<br/>Young Adult<br/>Zebrafish--embryology<br/>Zebrafish Proteins--genetics