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...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2019
主題:
Copy-Number Variation
オンライン･アクセス: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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