Musani, Vesna <br/><br/>
Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT.  [electronic resource] 

 -  International journal of molecular medicine  May 2006 
 - 755-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1107-3756 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Basal Cell Nevus Syndrome--genetics<br/>Base Sequence<br/>Child<br/>Craniopharyngioma--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Family Health<br/>Fatal Outcome<br/>Female<br/>Hedgehog Proteins<br/>Humans<br/>Immunohistochemistry<br/>Infant<br/>Loss of Heterozygosity<br/>Male<br/>Mutation<br/>Patched Receptors<br/>Patched-1 Receptor<br/>Pedigree<br/>Pituitary Neoplasms--genetics<br/>Receptors, Cell Surface--analysis<br/>Receptors, G-Protein-Coupled--physiology<br/>Signal Transduction--genetics<br/>Smoothened Receptor<br/>Trans-Activators--physiology<br/>Wnt Proteins--physiology