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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

2020The American Journal of Human Genetics43 citationsDOIOpen Access PDF

Topics & Concepts

MicrocephalyNuclear laminaLaminMissense mutationBiologyGeneticsLMNALeukodystrophyPhenotypeGene duplicationMutationGeneMedicineNuclear proteinPathologyTranscription factorDiseaseNuclear Structure and FunctionRNA Research and SplicingGenomics and Chromatin Dynamics
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity | Litcius