Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I

Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I

Background: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a connective tissue disorder that arises from mutations in multiple genes, each with distinct hereditary patterns. Stickler syndrome type I, which is inherited in an autosomal dominant manner, is specifical...

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Bibliographic Details
Main Authors: Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-01-01
Series:Journal of Research in Medical Sciences
Subjects:
col2a1 gene
hereditary arthro-ophthalmopathy
stickler syndrome type i
stickler syndrome vitreous type i
Online Access:https://journals.lww.com/10.4103/jrms.jrms_447_24
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