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Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.

Clinical genetics - 1 Feb 2021

Zeng Lanlan, Li Zhibin, Pan Lijuan, Li Hongyan, Wu Jiayu, Yuan Xiying, Li Zhuo, Liang Desheng, Wu Lingqian

Abstract excerpt

GZF1 was recently reported as a genetic factor associated with Larsen syndrome. Two patients presenting hip dislocation, scoliosis and severe myopia, as well as hearing loss and other abnormal features, were found to carry two novel compounds heterozygous variants in GZF1 (c.397400del, p. Leu133fs; and c.1474del, p. Met492fs) through whole-exome sequencing. The mRNA expression level of L133fs-GZF1 did not...

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PMID: 33009817
DOI: 10.1111/cge.13856

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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