Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group.
Jønch AE, et al.
J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26.
J Med Genet. 2019.
PMID: 31451536
Free PMC article.
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 variability. ...The estimated ORs and respective frequencies in deletion …
Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted …