Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma
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Author / Creator
Schedel, Anne , Friedrich, Ulrike Anne , Morcos, Mina N. F. , Wagener, Rabea , Mehtonen, Juha , Watrin, Titus , Saitta, Claudia , Brozou, Triantafyllia , Michler, Pia , Walter, Carolin , Försti, Asta , Baksi, Arka , Menzel, Maria , Horak, Peter , Paramasivam, Nagarajan , Fazio, Grazia , Autry, Robert J , Fröhling, Stefan , Suttorp, Meinolf , Gertzen, Christoph , Gohlke, Holger , Bhatia, Sanil , Wadt, Karin , Schmiegelow, Kjeld , Dugas, Martin , Richter, Daniela , Glimm, Hanno , Heinäniemi, Merja , Jessberger, Rolf , Cazzaniga, Gianni , Borkhardt, Arndt , Hauer, Julia and Auer, Franziska
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous RAD21 germline aberration at amino acid position 298 (p.P298S/A) identified in...
Alternative Titles
Full title
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma
Authors, Artists and Contributors
Author / Creator
Friedrich, Ulrike Anne
Morcos, Mina N. F.
Wagener, Rabea
Mehtonen, Juha
Watrin, Titus
Saitta, Claudia
Brozou, Triantafyllia
Michler, Pia
Walter, Carolin
Försti, Asta
Baksi, Arka
Menzel, Maria
Horak, Peter
Paramasivam, Nagarajan
Fazio, Grazia
Autry, Robert J
Fröhling, Stefan
Suttorp, Meinolf
Gertzen, Christoph
Gohlke, Holger
Bhatia, Sanil
Wadt, Karin
Schmiegelow, Kjeld
Dugas, Martin
Richter, Daniela
Glimm, Hanno
Heinäniemi, Merja
Jessberger, Rolf
Cazzaniga, Gianni
Borkhardt, Arndt
Hauer, Julia
Auer, Franziska
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9106003
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9106003
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23095174
