Condition: SINGLETON-MERTEN SYNDROME 1


rs376048533 in IFIH1 gene and SINGLETON-MERTEN SYNDROME 1 PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.