Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in ent...
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
About this item
Full title
Author / Creator
Kuil, Laura E. , MacKenzie, Katherine C. , Tang, Clara S. , Windster, Jonathan D. , Le, Thuy Linh , Karim, Anwarul , de Graaf, Bianca M. , van der Helm, Robert , van Bever, Yolande , Sloots, Cornelius E. J. , Meeussen, Conny , Tibboel, Dick , de Klein, Annelies , Wijnen, René M. H. , Amiel, Jeanne , Lyonnet, Stanislas , Garcia-Barcelo, Maria-Mercè , Tam, Paul K. H. , Alves, Maria M. , Brooks, Alice S. , Hofstra, Robert M. W. and Brosens, Erwin
Publisher
San Francisco: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
San Francisco: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Number Variation (CNV). Approximately 18% of patients have additional anatomical malformations or neurolo...
Alternative Titles
Full title
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Authors, Artists and Contributors
Author / Creator
MacKenzie, Katherine C.
Tang, Clara S.
Windster, Jonathan D.
Le, Thuy Linh
Karim, Anwarul
de Graaf, Bianca M.
van der Helm, Robert
van Bever, Yolande
Sloots, Cornelius E. J.
Meeussen, Conny
Tibboel, Dick
de Klein, Annelies
Wijnen, René M. H.
Amiel, Jeanne
Lyonnet, Stanislas
Garcia-Barcelo, Maria-Mercè
Tam, Paul K. H.
Alves, Maria M.
Brooks, Alice S.
Hofstra, Robert M. W.
Brosens, Erwin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2573455293
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2573455293
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1009698
