A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Abstract Background Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, cau...

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Bibliographic Details
Main Authors: Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara
Format: Article
Language:English
Published: BMC 2017-08-01
Series:Journal of Medical Case Reports
Subjects:
Stickler syndrome
COL2A1
Type II collagenopathy
Marshall syndrome
Online Access:http://link.springer.com/article/10.1186/s13256-017-1396-y

Internet

http://link.springer.com/article/10.1186/s13256-017-1396-y

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