Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants
Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants
About this item
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Author / Creator
Jung, Moonjung , Ramanagoudr-Bhojappa, Ramanagouda , Sylvie Van Twest , Rosti, Rasim Ozgur , Murphy, Vincent J , Tan, Winnie , Donovan, Frank , Lach, Francis , Kimble, Danielle , Jiang, Caroline , Vaughan, Roger , Mehta, Parinda , Pierri, Filomena , Doufour, Carlo , Auerbach, Arleen D , Deans, Andrew J , Smogorzewska, Agata and Chandrasekharappa, Settara C
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Scope and Contents
Contents
Fanconi anemia (FA) is the most common genetic cause of bone marrow failure, and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort of 19 children with FANCB variants, from 16 families of the International Fanconi Anemia Registry (IFAR). Those with FANCB deletion or truncation demon...
Alternative Titles
Full title
Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants
Authors, Artists and Contributors
Author / Creator
Ramanagoudr-Bhojappa, Ramanagouda
Sylvie Van Twest
Rosti, Rasim Ozgur
Murphy, Vincent J
Tan, Winnie
Donovan, Frank
Lach, Francis
Kimble, Danielle
Jiang, Caroline
Vaughan, Roger
Mehta, Parinda
Pierri, Filomena
Doufour, Carlo
Auerbach, Arleen D
Deans, Andrew J
Smogorzewska, Agata
Chandrasekharappa, Settara C
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TN_cdi_proquest_journals_2292431374
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2292431374
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/772574
How to access this item
https://www.proquest.com/docview/2292431374?pq-origsite=primo&accountid=13902
