Ansari, Morad <br/><br/>
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.  [electronic resource] 

 -  European journal of medical genetics  Oct 2014 
 - 587-95 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2014.08.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Chromosomes, Human, Pair 5<br/>Cleft Palate--genetics<br/>Clubfoot--complications<br/>Contracture--congenital<br/>Ear, External--abnormalities<br/>Female<br/>Fibrillin-2<br/>Fibrillins<br/>Fingers<br/>Gene Deletion<br/>Haploinsufficiency--genetics<br/>Humans<br/>Male<br/>Microfilament Proteins--genetics<br/>Mutation, Missense<br/>Nucleocytoplasmic Transport Proteins--genetics<br/>Phenotype<br/>Phosphoproteins--genetics<br/>Pierre Robin Syndrome--genetics<br/>Sequence Deletion--genetics<br/>Syndrome<br/>Young Adult