Beltrán-Valero de Bernabé, Daniel <br/><br/>
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.  [electronic resource] 

 -  American journal of human genetics  Nov 2002 
 - 1033-43 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/342975  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--embryology<br/>Brain--abnormalities<br/>Child, Preschool<br/>Chromosome Mapping<br/>Cytoskeletal Proteins--metabolism<br/>DNA Mutational Analysis<br/>Dystroglycans<br/>Eye Abnormalities--genetics<br/>Female<br/>Fetal Death<br/>Glycosylation<br/>Humans<br/>Immunohistochemistry<br/>Infant<br/>Male<br/>Mannosyltransferases--genetics<br/>Membrane Glycoproteins--metabolism<br/>Molecular Sequence Data<br/>Pedigree<br/>Sequence Analysis, DNA