Schlump, Jan-Ulrich <br/><br/>
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.  [electronic resource] 

 -  European journal of pediatrics  Nov 2012 
 - 1611-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1432-1076 
<br/><br/><label>Standard No.: </label>10.1007/s00431-012-1776-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Female<br/>Frameshift Mutation<br/>Genetic Markers<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mandibulofacial Dysostosis--diagnosis<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>Phosphoproteins--genetics