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Article

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

Orphanet journal of rare diseases - 12 Aug 2024

He Dongye, Zhang Mei, Li Yanying, Liu Fupeng, Ban Bo

Abstract excerpt

Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor predominantly localized in the cell nucleus, plays a crucial role in the expression regulation of key genes by recruiting chromatin remodelers and interacting with specific transcriptional repressors or activators during numerous biological processes. Its pathogenic variants are strongly linked to the pathogenesis and progression of...

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Identifiers

PMID: 39135054
DOI: 10.1186/s13023-024-03301-y
PMCID: PMC11318275

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