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

[A case of primary pigmented nodular adrenocortical disease caused by somatic variation of the PRKACA gene].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jan 2023

Xu Y Y, Li Y Y, Chen Q L, Ma H M, Zhang J, Guo S

Abstract excerpt

患儿男，7岁2月龄，因“生长停滞伴体重增长明显1年余”就诊，有典型的非促肾上腺皮质激素依赖性皮质醇增多症的临床表现及实验室检查特点，小剂量-大剂量地塞米松序贯试验提示反常性尿质醇增高。经肾上腺影像学检查及组织病理结果诊断为原发性色素结节性肾上腺皮质病，肾上腺组织基因检测发现PRKACA基因拷贝数重复变异，但在患儿和父母外周血中没有发现该基因变异。.

Read the complete abstract on PubMed

Topics

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

Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36594126
DOI: 10.3760/cma.j.cn112140-20220626-00589

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

[A case of primary pigmented nodular adrenocortical disease caused by somatic variation of the PRKACA gene].PMID 36594126Read ↗

[Primary pigmented nodular adrenocortical disease (PPNAD)].Semantic proximity Read ↗

[A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].Semantic proximity Read ↗

A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease.Semantic proximity Read ↗

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.Semantic proximity Read ↗

[Clinical and genetic study on tuberous slcerosis].Semantic proximity Read ↗

A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease.Semantic proximity Read ↗

[Pathology of adrenocortical tumors: review and recent data].Semantic proximity Read ↗

A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.Semantic proximity Read ↗

[A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease].Semantic proximity Read ↗

[Gene defects in congenital adrenal hyperplasia in Finnish patients].Semantic proximity Read ↗

A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease.Semantic proximity Read ↗

Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure.Semantic proximity Read ↗

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