Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

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Authors: Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

Journal title: Journal of Medical Genetics

Journal number: 57/3

Journal publisher: British Medical Association

Published year: 2020

Published pages: 195-202

DOI identifier: 10.1136/jmedgenet-2019-106396

ISSN: 0022-2593