Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.

Coeli, Fernanda Borchers

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

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1677-9487

10.1590/s0004-27302008000800012 doi


11-beta-Hydroxysteroid Dehydrogenase Type 2--genetics
Amino Acid Sequence
Child, Preschool
Consanguinity
Homozygote
Humans
Male
Mineralocorticoid Excess Syndrome, Apparent--genetics
Mutation, Missense--genetics