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