Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations hav...

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Publicado en:PLoS One
Autores principales: Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M., Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A., Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F., Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2016
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4790905/
https://ncbi.nlm.nih.gov/pubmed/26974433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0150555
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