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An Intragenic Duplication in the AFF2 Gene Associated with Cornelia De Lange Syndrome Phenotype

Cristina Lucia-Campos,Ilaria Parenti,Ana Latorre-Pellicer,Marta Gil-Salvador,Ilaria Bestetti,Palma Finelli,Lidia Larizza,Maria Arnedo,Ariadna Ayerza-Casas,Julia Del Rincon,Laura Trujillano,Beatriz Morte,Luis A. Perez-Jurado,Pablo Lapunzina,Elsa Leitao,Jasmin Beygo, Christina Lich,Fabian Kilpert,Sabine Kaya,Christel Depienne,Frank J. Kaiser,Feliciano J. Ramos,Beatriz Puisac,Juan Pie

FRONTIERS IN GENETICS（2024）

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Key words
AFF2,CdLS,intragenic duplication,familial case,X-inactivation,Oxford Nanopore Technologies
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