De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are associated with autosomal-dominant leukodystrophy. On the basis of its role in neurogenesis, it...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W., Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A., Bollen, Mathieu, Vermeesch, Joris R., Steet, Richard, Van Esch, Hilde
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536573/
https://ncbi.nlm.nih.gov/pubmed/32910914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.08.015
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