Coeli, Fernanda Borchers <br/><br/>
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.  [electronic resource] 

 -  Arquivos brasileiros de endocrinologia e metabologia  Nov 2008 
 - 1277-81 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1677-9487 
<br/><br/><label>Standard No.: </label>10.1590/s0004-27302008000800012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>11-beta-Hydroxysteroid Dehydrogenase Type 2--genetics<br/>Amino Acid Sequence<br/>Child, Preschool<br/>Consanguinity<br/>Homozygote<br/>Humans<br/>Male<br/>Mineralocorticoid Excess Syndrome, Apparent--genetics<br/>Mutation, Missense--genetics