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
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