@article{d4fd8f36e74743358c3a2d6c32cf153f,
title = "Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients",
abstract = "The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype-phenotype correlations and phenotypic variability have yet to be fully clarified.",
keywords = "17q21.31 deletion, KANSL1 mutation, clinical heterogeneity, genotype-phenotype correlations, 17q21.31 deletion, KANSL1 mutation, clinical heterogeneity, genotype-phenotype correlations",
author = "Marcella Zollino and Giuseppe Marangi and Emanuela Ponzi and Daniela Orteschi and Stefania Ricciardi and Serena Lattante and Marina Murdolo and Battaglia, {Domenica Immacolata} and Ilaria Contaldo and Mercuri, {Eugenio Maria} and Stefanini, {Maria Chiara} and Roseline Caumes and Patrick Edery and Massimiliano Rossi and Maria Piccione and Giovanni Corsello and Monica, {Matteo Della} and Francesca Scarano and Manuela Priolo and Mattia Gentile and Giuseppe Zampino and Raymon Vijzelaar and Omar Abdulrahman and Anita Rauch and Beatrice Oneda and Deardorff, {Matthew A.} and Saitta, {Sulagna C.} and Falk, {Marni J.} and Holly Dubbs and Elaine Zackai",
year = "2015",
doi = "10.1136/jmedgenet-2015-103184",
language = "English",
volume = "52",
pages = "804--814",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402",
}