Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with...
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
About this item
Full title
Author / Creator
Jeanne, Médéric , Vuillaume, Marie-Laure , Ung, Dévina C. , Vancollie, Valerie E. , Wagner, Christel , Collins, Stephan C. , Vonwill, Sandrine , Haye, Damien , Chelloug, Nora , Pfundt, Rolph , Kummeling, Joost , Moizard, Marie-Pierre , Marouillat, Sylviane , Kleefstra, Tjitske , Yalcin, Binnaz , Laumonnier, Frédéric and Toutain, Annick
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
The 22q11.2 deletion syndrome (22q11DS) is associated with a wide spectrum of cognitive and psychiatric symptoms. Despite the considerable work performed over the past 20 years, the genetic etiology of the neurodevelopmental phenotype remains speculative. Here, we report de novo heterozygous truncating variants in the
HIRA
(Histone cell cycle...
Alternative Titles
Full title
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Authors, Artists and Contributors
Author / Creator
Vuillaume, Marie-Laure
Ung, Dévina C.
Vancollie, Valerie E.
Wagner, Christel
Collins, Stephan C.
Vonwill, Sandrine
Haye, Damien
Chelloug, Nora
Pfundt, Rolph
Kummeling, Joost
Moizard, Marie-Pierre
Marouillat, Sylviane
Kleefstra, Tjitske
Yalcin, Binnaz
Laumonnier, Frédéric
Toutain, Annick
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_04094651v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_04094651v1
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-020-02252-1
