van der Ven, Amelie T <br/><br/>
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.  [electronic resource] 

 -  PloS one  2018 
 - e0191224 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0191224  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Animals<br/>Animals, Newborn<br/>Biomarkers, Tumor--chemistry<br/>Calcium-Binding Proteins<br/>Child<br/>Consanguinity<br/>Conserved Sequence<br/>Exons<br/>Extracellular Matrix Proteins--genetics<br/>Fraser Syndrome--genetics<br/>Gene Expression Regulation, Developmental<br/>Homozygote<br/>Humans<br/>Male<br/>Mice<br/>Models, Animal<br/>Models, Molecular<br/>Mutation, Missense<br/>Pedigree<br/>Sequence Homology, Amino Acid<br/>Urogenital Abnormalities--genetics<br/>Urogenital System--growth & development<br/>Vesico-Ureteral Reflux--genetics