ARHGEF18

Disease Category: autosomal recessive

Patient Population: < 5

Known Clinical Trials: None known

Treatment Options: None known

Strategies to Preserve Eye Health: None known

Institution(s) Conducting Research: None known

A FACE OF RP

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ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts

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