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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Hum Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2020
विषय:
Report
ऑनलाइन पहुंच: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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