Huber, Céline <br/><br/>
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.  [electronic resource] 

 -  American journal of human genetics  Nov 2013 
 - 926-31 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2013.10.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Carrier Proteins--genetics<br/>Cilia--genetics<br/>Cytoplasmic Dyneins--genetics<br/>Ellis-Van Creveld Syndrome--genetics<br/>Fibroblasts<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Mutation, Missense<br/>NF-kappa B--metabolism<br/>Ribs--abnormalities<br/>Short Rib-Polydactyly Syndrome--genetics<br/>Signal Transduction