Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
CONCLUSIONS: PCD was a type of COD or CORD and the novel compound heterozygous mutation in POC1B was responsible for PCD phenotype in the family.
PMID: 29377742 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
More News: Angiography | China Health | Fundoscopy | Genetics | Opthalmology | Reflex Sympathetic Dystrophy