The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Autor: Martorell L; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Yubero D; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Capdevila EC; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Fernández Isern G; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Salinas D; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Mari Vico R; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Rebollo M; Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Muchart J; Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Armstrong J; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2022 May; Vol. 101 (5-6), pp. 575-576. Date of Electronic Publication: 2022 Feb 22.
DOI: 10.1111/cge.14124
Databáze: MEDLINE
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