Wang, Chun Lin <br/><br/>
A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism.  [electronic resource] 

 -  Journal of pediatric endocrinology & metabolism : JPEM  Mar 2014 
 - 343-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2191-0251 
<br/><br/><label>Standard No.: </label>10.1515/jpem-2013-0260  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Hyperplasia, Congenital--complications<br/>Adrenal Insufficiency<br/>Base Sequence<br/>Child<br/>DAX-1 Orphan Nuclear Receptor--genetics<br/>DNA Primers<br/>Frameshift Mutation<br/>Genetic Diseases, X-Linked--complications<br/>Humans<br/>Hypoadrenocorticism, Familial<br/>Hypogonadism--complications<br/>Male<br/>Mutation, Missense<br/>Reverse Transcriptase Polymerase Chain Reaction