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Paper Details

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
American Journal of Human Genetics
24
2020
Disruption of Nuclear Envelope Integrity, LMNB1, LMNB1 variants, Lamin B1, Syndromic Microcephaly, abnormal corpus callosum, autosomal-dominant leukodystrophy, autosomal-dominant microcephaly, condensed, humans, intellectual disability, lamin B1, laminopathies, microcephaly, misshapen nuclei, neurological features, primary microcephaly, proband lymphoblasts, short stature
Author NameAffiliation
Heather Flanagan-SteetJC Self Research Institute
Angelo SelicorniSant'Anna Hospital
Richard SteetJC Self Research Institute
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Release 1.2