Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW.
Merico D, et al. Among authors: reid b.
Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.
Nat Commun. 2015.
PMID: 26522830
Free PMC article.