Svojgr, Karel <br/><br/>
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.  [electronic resource] 

 -  European journal of medical genetics  Mar 2016 
 - 152-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2015.11.013  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Antineoplastic Combined Chemotherapy Protocols--therapeutic use<br/>BRCA2 Protein--genetics<br/>Child, Preschool<br/>Family<br/>Fanconi Anemia--diagnosis<br/>Female<br/>Humans<br/>Immunophenotyping<br/>In Situ Hybridization, Fluorescence<br/>Loss of Heterozygosity<br/>Magnetic Resonance Imaging<br/>Male<br/>Phenotype<br/>Polymorphism, Single Nucleotide