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Article

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

Zhonghua nei ke za zhi - 1 May 2014

Ran Hui, Ma Xiaokun, Wang Qingzhu, Xie Ziyi, Ding Yanxia, Qin Guijun

Abstract excerpt

OBJECTIVE: To clarify the clinical features and genetic background of a kindred of primary pigmented nodular adrenocortical disease (PPNAD). METHODS: Detailed clinical characteristics and laboratory test results from a ten-year old girl diagnosed as PPNAD were collected. Seven members of her family were screened for Cushing syndrome and Carney complex, and their blood DNA was extracted and sequenced for PRKAR1A,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit

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Source

Identifiers

PMID: 25146409

Genes

CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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