RNU4ATAC

Publications

Edery P et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011;332(6026):240-3. PMID: 21474761.

Farach LS et al. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018;176(2):465-469. PMID: 29265708.

Merico D et al. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nature Communications. 2015;6(8718). PMID: 26522830.

Shelihan I et al. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. Hum Genet. 2018;137(11-12):905-909. PMID: 30368667.