Unveiling a TGFBI Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel–Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy

Unveiling a TGFBI Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel–Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy

Purpose: To identify the potential genetic factors responsible for retinal capillary hemangioblastoma (RCH) and Type II granular corneal dystrophy (GCDII), with autosomal dominant inheritance. We used whole-exome sequencing (WES) in an Iranian family to identify the possible genetic etiology of RCH...

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Main Authors: Fatemeh Azimi, Golnaz Khakpour, Ahad Sedaghat, Fatemeh Mostafaiee, Hengameh Kasraei, Masood Naseripour
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-04-01
Series:Journal of Current Ophthalmology
Subjects:
granular corneal dystrophy
retinal capillary hemangioblastoma
von hippel–lindau
whole-exome sequencing
Online Access:https://journals.lww.com/10.4103/joco.joco_53_24
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https://journals.lww.com/10.4103/joco.joco_53_24

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