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Article

Functional analysis of a novel pathogenic variant in CREBBP associated with bone development.

Pediatric research - 1 Dec 2024

Fang Qing, Xu Yunlan, Feng Jue, Zhang Xiaoqing, Wang Bo, Fu Qihua, Xiang Ying

Abstract excerpt

BACKGROUND: CREBBP has been extensively studied in syndromic diseases associated with skeletal dysplasia. However, there is limited research on the molecular mechanisms through which CREBBP may impact bone development. We identified a novel pathogenic CREBBP variant (c.C3862T/p.R1288W, which is orthologous to mouse c.3789 C > T/p.R1289W) in a patient with non-syndromic polydactyly. METHODS: We created a...

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Source

Identifiers

PMID: 39217261
DOI: 10.1038/s41390-024-03490-z

Genes

CREBBP
IMPACT

Variants

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.

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