HIGHLIGHTS
- who: Xuan-Thanh-An Nguyen et al. from the Department of Ophthalmology, Leiden University Medical Center, ZA Leiden, The Netherlands have published the article: The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective, in the Journal: Genes 2021, 12, x FOR PEER REVIEW Genes 2021, 12, 1404 of 10/Oct/2013
- what: This study investigated the phenotypic spectrum of_(polyneuropathy hearing loss ataxia retinitis pigmentosa and early-onset cataract) caused by biallelic variants in the gene. total of 15 patients from 12 different families were included with mean . . .
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