De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koenraad Devriendt, Heather Flanagan‐Steet, Melanie May, Julie R. Jones, Filip Roelens, Carmen Fons, Anna Fernández‐Arévalo, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris Vermeesch, Richard Steet, Hilde Van Esch
Topics & Concepts
MicrocephalyNuclear laminaLaminMissense mutationBiologyGeneticsLMNALeukodystrophyPhenotypeGene duplicationMutationGeneMedicineNuclear proteinPathologyTranscription factorDiseaseNuclear Structure and FunctionRNA Research and SplicingGenomics and Chromatin Dynamics