Ruiter, Mariken <br/><br/>
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.  [electronic resource] 

 -  Clinical dysmorphology  Oct 2010 
 - 195-197 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1473-5717 
<br/><br/><label>Standard No.: </label>10.1097/MCD.0b013e32833dc5ee  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chromosomes, Human, X<br/>Esophagus--abnormalities<br/>Female<br/>Genetic Diseases, X-Linked--genetics<br/>Humans<br/>Hypertelorism--genetics<br/>Hypospadias--genetics<br/>Infant<br/>Magnetic Resonance Imaging<br/>Male<br/>Microtubule Proteins--genetics<br/>Mutation, Missense<br/>Nuclear Proteins--genetics<br/>Transcription Factors--genetics<br/>Ubiquitin-Protein Ligases