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ATR-16 syndrome: mechanisms linking monosomy to phenotype

BACKGROUND: Deletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging. M...

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Detalles Bibliográficos
Autores principales:	Babbs, Christian, Brown, Jill, Horsley, Sharon W, Slater, Joanne, Maifoshie, Evie, Kumar, Shiwangini, Ooijevaar, Paul, Kriek, Marjolein, Dixon-McIver, Amanda, Harteveld, Cornelis L, Traeger-Synodinos, Jan, Wilkie, Andrew O M, Higgs, Douglas R, Buckle, Veronica J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279195/ https://www.ncbi.nlm.nih.gov/pubmed/32005695 http://dx.doi.org/10.1136/jmedgenet-2019-106528

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