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Article

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

The Journal of clinical endocrinology and metabolism - 1 Mar 2020

Peng Hui, Jenkins Zandra A, White Ruby, Connors Sam, Hunter Matthew F, Ronan Anne, Zankl Andreas, Markie David M, Daniel Philip B, Robertson Stephen P

Abstract excerpt

CONTEXT: The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression. OBJECTIVE: To evaluate the role of a gain-of-function variant in CTNNB1 in a child with a sclerosing bone dysplasia and an adrenocortical adenoma. DESIGN: Whole exome sequencing with corroborative biochemical analyses. PATIENTS: We recruited a child with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31970420
DOI: 10.1210/clinem/dgaa034

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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.

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