Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and...

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Publicado en:Am J Hum Genet
Autores principales: Jang, Mi-Ae, Kim, Eun Kyoung, Now, Hesung, Nguyen, Nhung T.H., Kim, Woo-Jong, Yoo, Joo-Yeon, Lee, Jinhyuk, Jeong, Yun-Mi, Kim, Cheol-Hee, Kim, Ok-Hwa, Sohn, Seongsoo, Nam, Seong-Hyeuk, Hong, Yoojin, Lee, Yong Seok, Chang, Sung-A, Jang, Shin Yi, Kim, Jong-Won, Lee, Myung-Shik, Lim, So Young, Sung, Ki-Sun, Park, Ki-Tae, Kim, Byoung Joon, Lee, Joo-Heung, Kim, Duk-Kyung, Kee, Changwon, Ki, Chang-Seok
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320253/
https://ncbi.nlm.nih.gov/pubmed/25620203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.11.019
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