A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

The purpose of this study was to describe a family with spondyloepiphyseal dysplasia caused by a novel type II collagen gene (COL2A1) mutation and the family’s phenotypic diversity. Clinical and radiographic examinations of skeletal dysplasia were conducted on seven affected family members across tw...

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Detalles Bibliográficos
Autores principales: Nakashima, Yasuharu, Sakamoto, Yuma, Nishimura, Gen, Ikegawa, Shiro, Iwamoto, Yukihide
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/PMC4871930/
https://www.ncbi.nlm.nih.gov/pubmed/27274858
http://dx.doi.org/10.1038/hgv.2016.7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871930/
https://www.ncbi.nlm.nih.gov/pubmed/27274858
http://dx.doi.org/10.1038/hgv.2016.7

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