Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshal...

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Detalles Bibliográficos
Autores principales: Guo, Long, Elcioglu, Nursel H, Wang, Zheng, Demirkol, Yasemin K, Isguven, Pinar, Matsumoto, Naomichi, Nishimura, Gen, Miyake, Noriko, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180/
https://www.ncbi.nlm.nih.gov/pubmed/28983407
http://dx.doi.org/10.1038/hgv.2017.40

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