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Article

A compound heterozygote case of type II aldosterone synthase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jun 2003

Dunlop Felicity M, Crock Patricia A, Montalto Joseph, Funder John W, Curnow Kathleen M

Abstract excerpt

An infant with failure to thrive, persistent hyponatremia and episodic vomiting and diarrhea was admitted to hospital at 9 months of age, and the diagnosis of type II aldosterone synthase deficiency was confirmed by plasma and urinary steroid determinations. The entire coding sequence of the aldosterone synthase gene (CYP11B2) was determined (both strands) in the affected infant, an unaffected sibling, and both...

Topics

Alleles
Base Sequence
Chromatography, Thin Layer
Cytochrome P-450 CYP11B2
Female
Genetic Testing
Heterozygote
Humans
Infant
Metabolism, Inborn Errors
Models, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Radioimmunoassay

Source

Identifiers

PMID: 12788848
DOI: 10.1210/jc.2003-030353

Provenance

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