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Article

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Molecular genetics & genomic medicine - 1 Jan 2024

Li Jiayi, Zhang Chuan, Tian Xinyuan, Zhou Bingbo, Chen Xue, Wang Yupei, Hao Shengju, Hui Ling, Meng Zhaoyan

Abstract excerpt

BACKGROUND: Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the ZBTB20. METHOD: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio...

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Identifiers

PMID: 38087819
DOI: 10.1002/mgg3.2304
PMCID: PMC10767601

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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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