Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associat...
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
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Author / Creator
Zanoni, Paolo , Steindl, Katharina , Sengupta, Deepanwita , Joset, Pascal , Bahr, Angela , Sticht, Heinrich , Lang-Muritano, Mariarosaria , van Ravenswaaij-Arts, Conny M.A. , Shinawi, Marwan , Andrews, Marisa , Attie-Bitach, Tania , Maystadt, Isabelle , Belnap, Newell , Benoit, Valerie , Delplancq, Geoffroy , de Vries, Bert B.A. , Grotto, Sarah , Lacombe, Didier , Larson, Austin , Mourmans, Jeroen , Õunap, Katrin , Petrilli, Giulia , Pfundt, Rolph , Ramsey, Keri , Blok, Lot Snijders , Tsatsaris, Vassilis , Vitobello, Antonio , Faivre, Laurence , Wheeler, Patricia G. , Wevers, Marijke R. , Wojcik, Monica , Zweier, Markus , Gozani, Or and Rauch, Anita
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
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More information
Scope and Contents
Contents
Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood.
We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elong...
Alternative Titles
Full title
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Authors, Artists and Contributors
Author / Creator
Steindl, Katharina
Sengupta, Deepanwita
Joset, Pascal
Bahr, Angela
Sticht, Heinrich
Lang-Muritano, Mariarosaria
van Ravenswaaij-Arts, Conny M.A.
Shinawi, Marwan
Andrews, Marisa
Attie-Bitach, Tania
Maystadt, Isabelle
Belnap, Newell
Benoit, Valerie
Delplancq, Geoffroy
de Vries, Bert B.A.
Grotto, Sarah
Lacombe, Didier
Larson, Austin
Mourmans, Jeroen
Õunap, Katrin
Petrilli, Giulia
Pfundt, Rolph
Ramsey, Keri
Blok, Lot Snijders
Tsatsaris, Vassilis
Vitobello, Antonio
Faivre, Laurence
Wheeler, Patricia G.
Wevers, Marijke R.
Wojcik, Monica
Zweier, Markus
Gozani, Or
Rauch, Anita
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8354849
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8354849
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01158-1
