Please use this identifier to cite or link to this item:
Title: Whole exome sequencing identified a pathogenic mutation of COL2A1 causing stickler syndrome in a Vietnamese family
Authors: Nguyen, Dang Ton
Pham, Minh Chau
Duong, Thu Trang
Nguyen, Thi Xuan
Nguyen, Xuan Hiep
Nguyen, Hai Ha
Keywords: Whole Exome Sequencing (WES)
Stickler syndrome
COL2A1 gene
Congenital high myopia
Retinal detachment
Issue Date: 2020
Series/Report no.: Tạp chí Công nghệ Sinh học;Số 04(18) .- Tr.609-615
Abstract: Stickler syndrome is a group of rare inherited diseases associated with abnormalities in connective tissues, specifically collagen of the eyes, ears, craniofacies, skeleton and joints. The inheritance pattern of this disease is either an autosomal dominant or an autosomal recessive based on the causative gene. Thus, our study contributes to not only the knowledge base of clinical and genetic aspects of stickler syndrome in Vietnam but also the awareness of the importance of genetic counseling in patients with COL2A1 c.C2818T mutation, as well as early diagnosis and appropriate treatment to prevent serious complications, especially blindness.
ISSN: 1811-4989
Appears in Collections:Công nghệ sinh học

Files in This Item:
File Description SizeFormat 
  Restricted Access
1.67 MBAdobe PDF
Your IP:

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.