Jamsheer, Aleksander <br/><br/>
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.  [electronic resource] 

 -  BMC medical genetics  Jan 2013 
 - 13 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/1471-2350-14-13  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Child<br/>Chromosomes, Human, Pair 5--genetics<br/>Cri-du-Chat Syndrome--genetics<br/>Dwarfism--genetics<br/>Face--abnormalities<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Male<br/>Radius--abnormalities<br/>Thumb--abnormalities<br/>Trisomy--genetics