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Article

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics - 17 Aug 2026

Xia Dan, Peng Xiaofang, Deng Zihao, Deng Shuyun, He Zhanwen, Zhang Jieming, Xiao Xiaoqin, Sun Xi, Qian Xiao, Zhang Xueyuan, Liang Liyang, Li Xiaojuan

Abstract excerpt

Craniofacial microsomia (CFM) exhibits significant phenotypic variability and degree of severity. While loss-of-function variants in SF3B2 have recently emerged as a genetic etiology, the molecular basis underlying this clinical heterogeneity remains poorly understood. Here, we report two probands harboring novel truncating SF3B2 variants and presenting with distinct clinical phenotypes. Proband 1, with a...

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Identifiers

PMID: 42608604
DOI: 10.1007/s00439-026-02860-3

Genes

SF3B2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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