Bertalan, Rita <br/><br/>
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing.  [electronic resource] 

 -  Clinical endocrinology  10 2017 
 - 407-408 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1365-2265 
<br/><br/><label>Standard No.: </label>10.1111/cen.13396  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>17-Hydroxysteroid Dehydrogenases--deficiency<br/>Child<br/>Consanguinity<br/>Gonadal Dysgenesis, 46,XY--enzymology<br/>Humans<br/>Male<br/>Mutation, Missense<br/>Exome Sequencing