Wierzba, Jolanta <br/><br/>
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.  [electronic resource] 

 -  BMC medical genetics  Jun 2012 
 - 43 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>10.1186/1471-2350-13-43  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins<br/>Child<br/>De Lange Syndrome--genetics<br/>Female<br/>Frameshift Mutation<br/>Humans<br/>Lymphocytes<br/>Mosaicism<br/>Mouth Mucosa<br/>Proteins--genetics<br/>Severity of Illness Index<br/>Turner Syndrome--genetics