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

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.

Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2022

Park Ji Hong, Kim Ji Hyun, Ahn Yo Han, Kang Hee Gyung, Ha Il Soo, Cheong Hae Il

Abstract excerpt

Objectives: Gordon syndrome (GS), also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized by hypertension, hyperkalemia, and metabolic acidosis. Its causative genes are CUL3, KLHL3, WNK1, and WNK4, and they are associated with varying severity of the disease. Herein, we report the first case of GS caused by a CUL3 mutation in a patient with short stature in Korea.Case presentation:...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to Clubfoot

Share to Cullin Proteins

Share to Growth Disorders

Share to Hand Deformities, Congenital

Share to Hyperkalemia

Source

Identifiers

PMID: 34480842
DOI: 10.1515/jpem-2021-0361

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.PMID 34480842Read ↗

The Molecular Genetics of Gordon Syndrome.Semantic proximity Read ↗

Three cases of Gordon syndrome with dominant KLHL3 mutations.Semantic proximity Read ↗

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.Semantic proximity Read ↗

Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.Semantic proximity Read ↗

Clinical and genetic features in 30 children with Gitelman syndrome.Semantic proximity Read ↗

Clinical and Genetic Characteristics in Patients With Gitelman SyndromeSemantic proximity Read ↗

Liddle Syndrome Caused by SCNN1B Mutation Presenting With Severe Early-Onset Hypertension and Hypokalemia in an Adolescent: A Case ReportSemantic proximity Read ↗

Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis.Semantic proximity Read ↗

First case report in China of Gitelman syndrome associated with ileocecal polyps in a childSemantic proximity Read ↗

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndromeSemantic proximity Read ↗

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.Semantic proximity Read ↗

Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.Semantic proximity Read ↗

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