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Singleton-Merten syndrome 2

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.

Epidemiology

The prevalence of all Singleton-Merten syndromes is less than 1:1,000,000.

Systematic

Singleton-Merten syndrome
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
DDX58

References:

1.

Jang MA et al. (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

external link
2.

Wikipedia article

Wikipedia EN (Singleton_Merten_syndrome) external link
Update: Aug. 14, 2020
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