IntragenicKANSL1mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients-Reference-Cited by-同舟云学术

IntragenicKANSL1mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Published:2015-09-30 Issue:12 Volume:52 Page:804-814
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Zollino Marcella,Marangi Giuseppe,Ponzi Emanuela,Orteschi Daniela,Ricciardi Stefania,Lattante Serena,Murdolo Marina,Battaglia Domenica,Contaldo Ilaria,Mercuri Eugenio,Stefanini Maria Chiara,Caumes Roseline,Edery Patrick,Rossi Massimiliano,Piccione Maria,Corsello Giovanni,Della Monica Matteo,Scarano Francesca,Priolo Manuela,Gentile Mattia,Zampino Giuseppe,Vijzelaar Raymon,Abdulrahman Omar,Rauch Anita,Oneda Beatrice,Deardorff Matthew A,Saitta Sulagna C,Falk Marni J,Dubbs Holly,Zackai Elaine

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism;Koolen;Nat Genet,2006

2. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome;Sharp;Nat Genet,2006

3. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability;Shaw-Smith;Nat Genet,2006

4. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome;Koolen;J Med Genet,2008

5. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome;Koolen;Nat Genet,2012

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