Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

Endocrine journal - 1 Jan 2013

Kondo Eisuke, Nakamura Akie, Homma Keiko, Hasegawa Tomonobu, Yamaguchi Takeshi, Narugami Masahiko, Hattori Tetsuo, Aoyagi Hayato, Ishizu Katsura, Tajima Toshihiro

Abstract excerpt

Isolated hypoaldosteronism is a rare and occasionally life-threatening cause of salt wasting in infancy. A 2-month-old Japanese boy of unrelated parents was examined for failure to thrive and poor weight gain. Laboratory findings were hyponatremia, hyperkalemia, high plasma renin and low aldoster...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Asian People
Share to Cytochrome P-450 CYP11B2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Source

Identifiers

PMID: 23018980
DOI: 10.1507/endocrj.ej12-0248

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23018980-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.PMID 23018980Read ↗

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.Semantic proximity Read ↗

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.Semantic proximity Read ↗

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencySemantic proximity Read ↗

The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 geneSemantic proximity Read ↗

Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.Semantic proximity Read ↗

Expression of CYP11B2 in Aldosterone-Producing Adrenocortical Adenoma: Regulatory Mechanisms and Clinical Significance.Semantic proximity Read ↗

Aldosterone synthase deficiency and related disorders.Semantic proximity Read ↗

Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature reviewSemantic proximity Read ↗

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.Semantic proximity Read ↗

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.Semantic proximity Read ↗

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.Semantic proximity Read ↗

Aldosterone signaling defect in young infants: single-center report and review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.