Benko, Sabina <br/><br/>
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.  [electronic resource] 

 -  Journal of medical genetics  Dec 2011 
 - 825-30 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2011-100255  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>46, XX Disorders of Sex Development--genetics<br/>Alleles<br/>Child<br/>Chromosome Mapping<br/>Comparative Genomic Hybridization<br/>DNA Copy Number Variations<br/>Female<br/>Gene Duplication<br/>Gonadal Dysgenesis, 46,XY--genetics<br/>Gonadoblastoma--genetics<br/>Haplotypes<br/>Humans<br/>Infant<br/>Male<br/>Pedigree<br/>Regulatory Sequences, Nucleic Acid<br/>SOX9 Transcription Factor--genetics<br/>Sex-Determining Region Y Protein--genetics