Kaiser, Frank J <br/><br/>
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.  [electronic resource] 

 -  Human molecular genetics  Jun 2014 
 - 2888-900 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddu002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Cranial Fontanelles--abnormalities<br/>De Lange Syndrome--enzymology<br/>Eye Abnormalities--enzymology<br/>Female<br/>Genes, X-Linked<br/>Histone Deacetylases--chemistry<br/>Humans<br/>Hypertelorism--enzymology<br/>Infant<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Phenotype<br/>Repressor Proteins--chemistry<br/>Sequence Alignment