Dollfus, Hélène <br/><br/>
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.  [electronic resource] 

 -  American journal of medical genetics  May 2002 
 - 218-25 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0148-7299 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.10349  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acrocephalosyndactylia--genetics<br/>Amino Acid Substitution<br/>Animals<br/>Family Health<br/>Female<br/>Genetic Variation<br/>Humans<br/>Male<br/>Mice<br/>Mice, Inbred Strains<br/>Mice, Mutant Strains<br/>Mice, Transgenic<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Transcription Factors--genetics<br/>Twist-Related Protein 1