A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diag...

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Detalles Bibliográficos
Autores principales: Kohmoto, Tomohiro, Tsuji, Atsumi, Morita, Kei-ichi, Naruto, Takuya, Masuda, Kiyoshi, Kashimada, Kenichi, Enomoto, Keisuke, Morio, Tomohiro, Harada, Hiroyuki, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823386/
https://www.ncbi.nlm.nih.gov/pubmed/27081569
http://dx.doi.org/10.1038/hgv.2016.3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823386/
https://www.ncbi.nlm.nih.gov/pubmed/27081569
http://dx.doi.org/10.1038/hgv.2016.3

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