Shamseldin HE et al. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013;93(3):555-60. PMID: 23972372.
Salpietro V et al. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Hum Mutat. 2018;39(2):187-192. PMID: 29127725.
Faily S et al. Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. Eur J Med Genet. 2017;60(10):527-532. PMID: 28711741