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Article

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

Molecular medicine reports - 1 Aug 2017

Jia Xiuhua, Zhu Xiang, Li Qigen, Jia Xiaoyun, Li Shiqiang, Guo Xiangming

Abstract excerpt

The purpose of the current study was to identify novel mutations in the FRMD7 (FERM domain containing 7) gene and to characterize clinical features in Chinese patients with congenital motor nystagmus. For this purpose, 18 patients with congenital motor nystagmus were selected from the ocular genetic diseases bank of the Pediatric and Genetic Clinic of Zhongshan Ophthalmic Center (Guangdong, China). Direct...

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Source

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Identifiers

PMID: 28656292
DOI: 10.3892/mmr.2017.6824
PMCID: PMC5562100

Genes

FRMD7

Variants

Provenance

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

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