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Items: 3

Select item 102827391.

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Qi Yang, Di Gong, Shang Yi, Jingsi Luo, Qinle Zhang

Front Pediatr. 2023; 11: 1064783. Published online 2023 Jun 7. doi: 10.3389/fped.2023.1064783

PMCID:: PMC10282739

Abstract Article PDF–2.4M

Select item 98000362.

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature

Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, David Dyment, Bekim Sadikovic

Front Cell Dev Biol. 2022; 10: 1022683. Published online 2022 Dec 15. doi: 10.3389/fcell.2022.1022683

PMCID:: PMC9800036

Abstract Article PDF–1.2M

Select item 83548493.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M. A. van Ravenswaaij-Arts, Marwan Shinawi, Marisa Andrews, Tania Attie-Bitach, Isabelle Maystadt, Newell Belnap, Valerie Benoit, Geoffroy Delplancq, Bert B. A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica Wojcik, Markus Zweier, Or Gozani, Anita Rauch

Genet Med. 2021; 23(8): 1474–1483. Published online 2021 May 3. doi: 10.1038/s41436-021-01158-1