Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome-Reference-Cited by-同舟云学术

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Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome

Published:2024 Issue: Volume:2 Page:101838
ISSN:2949-7744
Container-title:Genetics in Medicine Open
language:en
Short-container-title:Genetics in Medicine Open

Author:

Kawai Tomoko^ORCID,Kinoshita Shiori,Takayama Yuka,Ohnishi Eriko,Kamura Hiromi,Kojima Kazuaki,Kikuchi Hiroki,Terao Miho,Sugawara Tohru,Migita Ohsuke,Kagami Masayo,Isojima Tsuyoshi,Yamaguchi Yu,Wakui Keiko,Ohashi Hirofumi,Shimizu Kenji,Mizuno Seiji,Okamoto Nobuhiko,Fukushima Yoshimitsu,Takada Fumio,Kosaki Kenjiro,Takada Shuji^ORCID,Akutsu Hidenori,Ura Kiyoe,Nakabayashi Kazuhiko,Hata Kenichiro^ORCID

Funder

National Center for Child Health and Development

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Reference49 articles.

1. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region;Wright;Hum Mol Genet,1997

2. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2;Zollino;Am J Hum Genet,2003

3. De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype;Derar;Genet Med,2019

4. De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features;Lozier;J Hum Genet,2018

5. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2);Boczek;Am J Med Genet A,2018

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