Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

BACKGROUND: The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variabil...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Copy-Number Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817694/
https://ncbi.nlm.nih.gov/pubmed/31451536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105879
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