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

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, caused by a...

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Detalles Bibliográficos
Autores principales: Higuchi, Yousuke, Hasegawa, Kosei, Yamashita, Miho, Tanaka, Hiroyuki, Tsukahara, Hirokazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574094/
https://www.ncbi.nlm.nih.gov/pubmed/28841907
http://dx.doi.org/10.1186/s13256-017-1396-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574094/
https://www.ncbi.nlm.nih.gov/pubmed/28841907
http://dx.doi.org/10.1186/s13256-017-1396-y

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