Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Summary

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Authors: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

Journal title: Genetics in Medicine

Journal number: 23/2

Journal publisher: Lippincott Williams & Wilkins Ltd.

Published year: 2021

Published pages: 408-414

DOI identifier: 10.1038/s41436-020-00980-3

ISSN: 1098-3600