Kato, Mitsuhiro <br/><br/>
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.  [electronic resource] 

 -  Human mutation  Feb 2004 
 - 147-159 p.  digital 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10310  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Agenesis of Corpus Callosum<br/>Cells, Cultured<br/>Corpus Callosum--pathology<br/>DNA Mutational Analysis--methods<br/>Female<br/>Gene Expression Regulation--genetics<br/>Genetic Linkage--genetics<br/>Genitalia, Female--abnormalities<br/>Genitalia, Male--abnormalities<br/>Genotype<br/>Homeodomain Proteins--biosynthesis<br/>Humans<br/>Infant, Newborn<br/>Lymphocytes--chemistry<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation--genetics<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Sex Chromosome Disorders--genetics<br/>Transcription Factors--biosynthesis