Singleton-Merten syndrome 2 is an autosomal dominant disorder caused by mutations of the DDX58 gene. It is characterized by dental dysplasia, progressive calcification of the thoracic aorta and the aortiv valve, osteoporosis, and expansion of the marrow cavities. Additionally can develop glaukoma and psoriasis-like skin leasons.
The prevalence of all Singleton-Merten syndromes is less than 1:1,000,000.
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Jang MA et al. (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. |
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Wikipedia article Wikipedia EN (Singleton_Merten_syndrome) |