Carlos R Ferreira Yanick J Crow William A Gahl Pamela J Gardner Raphaela Goldbach-Mansky Sun Hur Adriana Almeida de Jesús Michele Nehrebecky Ji Woo Park Tracy A Briggs
10.1007/s10875-018-0572-1
J Clin Immunol
2019 Jan;39(1):75-80.
interferonopathy singleton-merten syndrome retinoic acid-inducible gene i type i interferon
CC BY
https://pubmed.ncbi.nlm.nih.gov/30574673/
Aortic Diseases / genetics DEAD Box Protein 58 / genetics Dental Enamel Hypoplasia / genetics Metacarpus / abnormalities Muscular Diseases / genetics Odontodysplasia / genetics Osteoporosis / genetics Vascular Calcification / genetics
Aortic Diseases / genetics DEAD Box Protein 58 / genetics Dental Enamel Hypoplasia / genetics Metacarpus / abnormalities Muscular Diseases / genetics Odontodysplasia / genetics Osteoporosis / genetics Vascular Calcification / genetics Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Adult Cell Line Female Gain of Function Mutation / genetics HEK293 Cells Humans Interferon Type I / genetics Male Middle Aged Phenotype Promoter Regions, Genetic / genetics Receptors, Immunologic Interferon Type I Receptors, Immunologic DDX58 protein, human DEAD Box Protein 58 Singleton Merten syndrome
PMC6394545
30574673
DDX58 and Classic Singleton-Merten Syndrome
2019