Campeau, Philippe M <br/><br/>
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.  [electronic resource] 

 -  Human mutation  Nov 2012 
 - 1520-5 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22141  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--enzymology<br/>Base Sequence<br/>Blepharophimosis--enzymology<br/>Blepharoptosis--enzymology<br/>Craniofacial Abnormalities--enzymology<br/>DNA--genetics<br/>Databases, Nucleic Acid<br/>Female<br/>Genetic Association Studies<br/>Haploinsufficiency<br/>Heart Defects, Congenital--enzymology<br/>Histone Acetyltransferases--chemistry<br/>Humans<br/>Intellectual Disability--enzymology<br/>Kidney--abnormalities<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Patella--abnormalities<br/>Psychomotor Disorders--enzymology<br/>Scrotum--abnormalities<br/>Sequence Deletion<br/>Urogenital Abnormalities--enzymology