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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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| Udgivet i: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2020
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| Fag: | |
| Online adgang: | 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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