Gueneau, Lucie <br/><br/>
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.  [electronic resource] 

 -  American journal of medical genetics. Part A  Feb 2014 
 - 522-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36300  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Congenital Bone Marrow Failure Syndromes<br/>DNA Mutational Analysis<br/>Facies<br/>Female<br/>Gene Order<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Mutation<br/>Neutropenia--congenital<br/>Obesity--diagnosis<br/>Pedigree<br/>Phenotype<br/>Retinal Diseases--diagnosis<br/>Syndrome<br/>Vesicular Transport Proteins--genetics