Bertelloni, Silvano <br/><br/>
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.  [electronic resource] 

 -  Hormone research in paediatrics  2014 
 - 104-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1663-2826 
<br/><br/><label>Standard No.: </label>10.1159/000354990  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Androgens--metabolism<br/>Codon--genetics<br/>Cohort Studies<br/>Disorder of Sex Development, 46,XY--genetics<br/>Endocrine System--metabolism<br/>Exons--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Hydrocortisone--metabolism<br/>Infant<br/>Mutation--genetics<br/>Sequence Analysis, DNA<br/>Steroidogenic Factor 1--genetics