Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheri...
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
About this item
Full title
Author / Creator
Schnappauf, Oskar , Zhou, Qing , Moura, Natalia Sampaio , Ombrello, Amanda K. , Michael, Drew G. , Deuitch, Natalie , Barron, Karyl , Stone, Deborah L. , Hoffmann, Patrycja , Hershfield, Michael , Applegate, Carolyn , Bjornsson, Hans T. , Beck, David B. , Witmer, P. Dane , Sobreira, Nara , Wohler, Elizabeth , Chiorini, John A. , Center, The American Genome , Dalgard, Clifton L. , Center, NIH Intramural Sequencing , Kastner, Daniel L. and Aksentijevich, Ivona
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This study aimed to identify disease-causing variants by conventional Sanger and whole exome sequencing in two families suspected to have DADA2 and non-confirmatory genoty...
Alternative Titles
Full title
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Authors, Artists and Contributors
Author / Creator
Zhou, Qing
Moura, Natalia Sampaio
Ombrello, Amanda K.
Michael, Drew G.
Deuitch, Natalie
Barron, Karyl
Stone, Deborah L.
Hoffmann, Patrycja
Hershfield, Michael
Applegate, Carolyn
Bjornsson, Hans T.
Beck, David B.
Witmer, P. Dane
Sobreira, Nara
Wohler, Elizabeth
Chiorini, John A.
Center, The American Genome
Dalgard, Clifton L.
Center, NIH Intramural Sequencing
Kastner, Daniel L.
Aksentijevich, Ivona
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2429599448
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2429599448
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-020-00817-3
