Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim, Zahide Alaçam, Laurence Faivre, Kathleen M. Collins, Erica H. Gerkes, Mieke M. van Haelst, Ingrid M.B.H. van de Laar, Kristin Lindstrom, Mathilde Nizon, James Pauling, Edyta Heropolitańska–Pliszka, Astrid S. Plomp, Caroline Racine, Rani Sachdev, Margje Sinnema, Jon Skranes, Hermine E. Veenstra‐Knol, Eline A. Verberne, Anneke T. Vulto-van Silfhout, Marlon E. F. Wilsterman, E. Ahn, Bert B.A. de Vries, Lisenka E.L.M. Vissers
Topics & Concepts
Missense mutationPhenotypeGeneticsHaploinsufficiencyBiologyLoss functionGeneRNA splicingPhenocopyMutationRNARNA modifications and cancerGenomics and Rare DiseasesRNA Research and Splicing