Genetics and phenotypes of

• Tác giả: Anna Luiza Braga Albuquerque, Rodrigo Rezende Arantes, Sarah Pereira de Freitas Cenachi, Luiz Armando Cunha De Marco, Maria Frasson, Virgínia Mares, Anna Laura Marques Nascentes, Márcio Bittar Nehemy
• Ngôn ngữ: eng
• Ký hiệu phân loại: 121.686 Philosophical hermeneutics
• Thông tin xuất bản: United States : Molecular vision , 2025
• Bộ sưu tập: NCBI
• ID: 746841
• Chủ đề: 1. Genetics; 2. And; 3. Phenotypes

Tóm tắt

PURPOSE: Biallelic variants in the retinal pigment epithelium-specific 65-kDa protein ( METHODS: LCA, EOSRD, and RP diagnoses were based on predefined clinical criteria. Patients underwent comprehensive clinical evaluations and retinal imaging. Genomic DNA was analyzed using a next-generation sequencing panel for IRDs, covering 238 genes.