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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...
Shranjeno v:
| izdano v: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2015
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| Teme: | |
| Online dostop: | 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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