Claassen, David <br/><br/>
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.  [electronic resource] 

 -  Cold Spring Harbor molecular case studies  12 2018 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2373-2873 
<br/><br/><label>Standard No.: </label>10.1101/mcs.a003384  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Deaminase--genetics<br/>Anemia, Diamond-Blackfan--diagnosis<br/>Anemia, Hypoplastic, Congenital--diagnosis<br/>Bone Marrow--physiopathology<br/>Child<br/>Genetic Testing--methods<br/>Humans<br/>Intercellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Mutation<br/>Parents<br/>Ribosomal Proteins<br/>Exome Sequencing